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method="post"
>
<input type="hidden" name="csrfmiddlewaretoken" value="mFV1aSEckD7kj1PRuWIMVz0eRRaiAYPnDsF6NI7yUeUOdsVH7flOpHwSpVSutznH">
<div class="action-panel-control-wrap">
<span class="action-panel-label">
Subject:
</span>
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 29599784 - PubMed</span>
<input type="hidden" name="email-subject" value="1 selected item: 29599784"/>
<input type="hidden" name="email-subject-hash" value="8f934157e2683b10f871e180040ec5a261ee3d17609e096890e8686153a5d3f8"/>
</div>
<div class="action-panel-control-wrap">
<label for="email-to" class="action-panel-label required-field-asterisk">
To:
</label>
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
</div>
<div class="action-panel-control-wrap">
<label for="email-from" class="action-panel-label">
From:
</label>
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
</div>
<div class="action-panel-control-wrap">
<label for="email-citation-format" class="action-panel-label">
Format:
</label>
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
<option selected="selected" value="summary">Summary</option>
<option value="summary-text">Summary (text)</option>
<option value="abstract">Abstract</option>
<option value="abstract-text">Abstract (text)</option>
</select>
</div>
<div class="include-supplemental-container">
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
</div>
<div class="form-field recaptcha ">
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
</div>
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="send">
Send email
</button>
<button class="action-panel-cancel"
aria-label="Close 'Email citations' panel"
ref="linksrc=close_email_panel"
aria-controls="email-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="cancel">
Cancel
</button>
</div>
<input type="hidden" name="email-search-details" value="" />
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
</form>
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<div id="collections-action-panel"
class="collections-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-collections-open-panel-enabled="false"
data-collections-open-panel-url-hash="#open-collections-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to Collections
</h3>
<form id="collections-action-panel-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-myncbi-max-collection-name-length="100"
data-add-to-collection-max-amount="1000"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
<input type="hidden" name="csrfmiddlewaretoken" value="mFV1aSEckD7kj1PRuWIMVz0eRRaiAYPnDsF6NI7yUeUOdsVH7flOpHwSpVSutznH">
<div class="choice-group" role="radiogroup">
<ul class="radio-group-items">
<li>
<input type="radio"
id="collections-action-panel-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_new">
<label for="collections-action-panel-new">Create a new collection</label>
</li>
<li>
<input type="radio"
id="collections-action-panel-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_existing">
<label for="collections-action-panel-existing">Add to an existing collection</label>
</li>
</ul>
</div>
<div class="controls-wrapper">
<div class="action-panel-control-wrap new-collections-controls">
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label>
<input
type="text"
name="add-to-new-collection"
id="collections-action-panel-add-to-new"
class="collections-action-add-to-new"
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
maxlength="100"
data-ga-category="save_share"
data-ga-action="create_collection"
data-ga-label="non_favorties_collection">
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
Name must be less than 100 characters
</div>
</div>
<div class="action-panel-control-wrap existing-collections-controls">
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
Choose a collection:
</label>
<select id="collections-action-panel-add-to-existing"
class="action-panel-selector collections-action-add-to-existing"
data-ga-category="save_share"
data-ga-action="select_collection"
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
</select>
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your collection due to an error<br>
<a href="#">Please try again</a>
</div>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="add">
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to Collections' panel"
ref="linksrc=close_collections_panel"
aria-controls="collections-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="bibliography-action-panel"
class="bibliography-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-bibliography-open-panel-enabled="false"
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to My Bibliography
</h3>
<form id="bibliography-action-panel-form"
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-add-to-bibliography-max-amount="100"
data-add-to-bibliography-batch-size="10"
data-bibliography-delegates-url="/list-bibliography-delegates/"
data-add-to-bibliography-url="/add-to-bibliography/"
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<div class="action-panel-control-wrap bibliographies-controls">
<div class="choice-group">
<ul class="bibliographies-action-add radio-group-items">
<li>
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
<label for="my-bibliography">My Bibliography</label>
</li>
</ul>
</div>
</div>
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your delegates due to an error<br>
<a href="#">Please try again</a>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore>
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to bibliography' panel"
ref="linksrc=close_bibliography_panel"
aria-controls="bibliography-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="mybib"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
data-saved-search-open-panel-enabled="false"
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your saved search
</h2>
<form id="saved-search-action-panel-form"
class="saved-search-action-panel-form action-panel-content action-form"
data-create-saved-search-url="/create-saved-search/"
data-try-search-terms-url="/try-search-term/"
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
<input type="hidden" name="csrfmiddlewaretoken" value="mFV1aSEckD7kj1PRuWIMVz0eRRaiAYPnDsF6NI7yUeUOdsVH7flOpHwSpVSutznH">
<div class="action-panel-control-wrap">
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
Name of saved search:
</label>
<input maxlength="200"
type="text"
name="saved-search-name"
id="saved-search-name"
class="saved-search-name"
value=""
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
Search terms:
</label>
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
</div>
<div class="test-search-term-wrap">
<a href="#" class="try-search-term">Test search terms</a>
</div>
<div class="choice-group action-panel-extra-margin-top">
<span class="action-panel-label" id="fieldset-label">
Would you like email updates of new search results?
</span>
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
<ul class="radio-group-items">
<li>
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
</li>
<li>
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
<label for="saved-search-alert-no" class="action-panel-label">No</label>
</li>
</ul>
</fieldset>
</div>
<div class="alert-schedule-wrap">
<div class="action-panel-control-wrap">
<label class="action-panel-label">
Email:
</label>
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
</div>
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="saved-search-frequency" class="action-panel-label">
Frequency:
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<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
<option value="monthly">Monthly</option>
<option value="weekly">Weekly</option>
<option value="daily">Daily</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-monthly-additional">
<label for="saved-search-monthly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
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<option value="Monday">The first Monday</option>
<option value="Tuesday">The first Tuesday</option>
<option value="Wednesday">The first Wednesday</option>
<option value="Thursday">The first Thursday</option>
<option value="Friday">The first Friday</option>
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</div>
<div class="action-panel-control-wrap saved-search-weekly-additional">
<label for="saved-search-weekly-on-day" class="action-panel-label">
Which day?
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<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
<option value="Sunday">Sunday</option>
<option value="Monday">Monday</option>
<option value="Tuesday">Tuesday</option>
<option value="Wednesday">Wednesday</option>
<option value="Thursday">Thursday</option>
<option value="Friday">Friday</option>
<option value="Saturday">Saturday</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-report" class="action-panel-label">
Report format:
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<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
<option value="DocSum">Summary</option>
<option value="DocSumText">Summary (text)</option>
<option value="Abstract">Abstract</option>
<option value="AbstractText">Abstract (text)</option>
<option value="MEDLINE">PubMed</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-amount" class="action-panel-label">
Send at most:
</label>
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
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<option value="5" selected>5 items</option>
<option value="10">10 items</option>
<option value="20">20 items</option>
<option value="50">50 items</option>
<option value="100">100 items</option>
<option value="200">200 items</option>
</select>
</div>
<div>
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
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Send even when there aren't any new results
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</div>
<div class="action-panel-control-wrap option-text-in-email-wrap">
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Optional text in email:
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<textarea name="saved-search-email-text"
id="saved-search-email-text"
class="saved-search-email-text"></textarea>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Saving..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Save
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your saved search' panel"
ref="linksrc=close_saved_search_panel"
aria-controls="saved-search-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Create a file for external citation management software
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class="action-panel-content action-form"
action="/results-export-ids/"
data-by-search-action="/results-export-search-data/"
data-by-ids-action="/results-export-ids/"
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data-by-search-method="post"
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<input name="results-format" type="hidden" value="pubmed"/>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="save">
Create file
</button>
<button class="action-panel-cancel"
aria-label="Close 'Send citations to citation manager' panel"
ref="linksrc=close_citation_manager_panel"
aria-controls="citation-manager-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your RSS Feed
</h2>
<form id="rss-action-panel-form"
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data-create-rss-feed-url="/create-rss-feed-url/"
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<div class="action-panel-control-wrap">
<label for="rss-name" class="action-panel-label required-field-asterisk">
Name of RSS Feed:
</label>
<input maxlength="200"
placeholder="Name"
type="text"
name="rss-name"
id="rss-name"
class="rss-name"
value=''
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="rss-limit-wrap">
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="rss-limit" class="action-panel-label">
Number of items displayed:
</label>
<select id="rss-limit" class="no-border-panel-selector rss-limit">
<option value="5">5</option>
<option value="10">10</option>
<option value="15" selected="selected">15</option>
<option value="20">20</option>
<option value="50">50</option>
<option value="100">100</option>
</select>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Creating..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Create RSS
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your RSS' panel"
ref="linksrc=close_rss_panel"
aria-controls="rss-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
<div class="action-panel-control-wrap rss-link-copy-wrap">
<label for="rss-link" class="usa-sr-only">RSS Link</label>
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
<button
type="button"
disabled
class="rss-link-copy-button disabled"
data-ga-category="save_share"
data-ga-action="rss"
data-ga-label="copy">
Copy
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</div>
</form>
</div>
</div>
</div>
</div>
<div class="article-page" id="article-page" data-article-pmid="29599784">
<aside class="page-sidebar">
<div class="inner-wrap">
<div class="full-text-links">
<div class="full-view">
<h3 class="title">
Full text links
</h3>
<div class="full-text-links-list">
<a class="link-item
dialog-focus"
href="https://doi.org/10.3389/fimmu.2018.00543"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=6956&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=29599784&amp;db=pubmed&amp;nlmid=101560960"
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"
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target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=29599784&amp;db=pubmed&amp;nlmid=101560960"
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<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
Full text links
</a>
</div>
</div>
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
aria-label="Open dialog with citation text in different styles"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="open"
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data-citation-style="nlm"
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aria-label="Save article in MyNCBI collections."
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data-ga-action="click"
data-ga-label="collections_button"
data-collections-open-dialog-enabled="false"
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F29599784%2F%23open-collections-dialog"
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
class="dialog collections-dialog"
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-myncbi-max-collection-name-length="100"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="mFV1aSEckD7kj1PRuWIMVz0eRRaiAYPnDsF6NI7yUeUOdsVH7flOpHwSpVSutznH"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
id="collections-action-dialog-new"
class="collections-new"
name="collections"
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<h1 class="heading-title">
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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17
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatric Immunology, Hematology and Rheumatology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children&#x27;s Hospital, Paris, France." href="#full-view-affiliation-22" ref="linksrc=author_aff">
22
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="INSERM UMR 1163, Imagine Institute, Paris, France." href="#full-view-affiliation-23" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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24
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Lennart Hammarström">Lennart Hammarström</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden." href="#full-view-affiliation-3" ref="linksrc=author_aff">
3
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1
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Freiburg, Germany." href="#full-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Jolles+S&amp;cauthor_id=29599784"
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data-ga-label="Stephen Jolles">Stephen Jolles</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom." href="#full-view-affiliation-25" ref="linksrc=author_aff">
25
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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8
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kindle+G&amp;cauthor_id=29599784"
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1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Ayca Kiykim">Ayca Kiykim</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Pediatric Allergy/Immunology, Marmara University, Istanbul, Turkey." href="#full-view-affiliation-8" ref="linksrc=author_aff">
8
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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17
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Bodo Grimbacher">Bodo Grimbacher</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Longhurst+H&amp;cauthor_id=29599784"
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data-ga-label="Hilary Longhurst">Hilary Longhurst</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute of Immunity and Transplantation, Royal Free Hospital, London, United Kingdom." href="#full-view-affiliation-10" ref="linksrc=author_aff">
10
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data-ga-label="Nizar Mahlaoui">Nizar Mahlaoui</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatric Immunology, Hematology and Rheumatology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children&#x27;s Hospital, Paris, France." href="#full-view-affiliation-22" ref="linksrc=author_aff">
22
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France." href="#full-view-affiliation-26" ref="linksrc=author_aff">
26
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Tomas Milota">Tomas Milota</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Immunology, 2nd Faculty of Medicine Charles University and Motol University Hospital, Prague, Czechia." href="#full-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Fernando Moreira">Fernando Moreira</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute of Immunity and Transplantation, Royal Free Hospital, London, United Kingdom." href="#full-view-affiliation-10" ref="linksrc=author_aff">
10
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Despina Moshous">Despina Moshous</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Paris, France." href="#full-view-affiliation-17" ref="linksrc=author_aff">
17
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatric Immunology, Hematology and Rheumatology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children&#x27;s Hospital, Paris, France." href="#full-view-affiliation-22" ref="linksrc=author_aff">
22
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="INSERM UMR 1163, Imagine Institute, Paris, France." href="#full-view-affiliation-23" ref="linksrc=author_aff">
23
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mukhina+A&amp;cauthor_id=29599784"
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data-ga-label="Anna Mukhina">Anna Mukhina</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Immunology, Research and Clinical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia." href="#full-view-affiliation-28" ref="linksrc=author_aff">
28
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Olaf Neth">Olaf Neth</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sección de Infectologıa, Rheumatología and Inmunodeficiencias, Unidad de Pediatria, Hospital Virgen del Rocıo, Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain." href="#full-view-affiliation-29" ref="linksrc=author_aff">
29
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Neven+B&amp;cauthor_id=29599784"
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data-ga-label="Benedicte Neven">Benedicte Neven</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Paris, France." href="#full-view-affiliation-17" ref="linksrc=author_aff">
17
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatric Immunology, Hematology and Rheumatology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children&#x27;s Hospital, Paris, France." href="#full-view-affiliation-22" ref="linksrc=author_aff">
22
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Immunogenetics of Pediatric Autoimmunity, INSERM UMR 1163, Imagine Institute, Paris, France." href="#full-view-affiliation-30" ref="linksrc=author_aff">
30
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Nieters+A&amp;cauthor_id=29599784"
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data-ga-label="Alexandra Nieters">Alexandra Nieters</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Olbrich+P&amp;cauthor_id=29599784"
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data-ga-label="Peter Olbrich">Peter Olbrich</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sección de Infectologıa, Rheumatología and Inmunodeficiencias, Unidad de Pediatria, Hospital Virgen del Rocıo, Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain." href="#full-view-affiliation-29" ref="linksrc=author_aff">
29
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Ozen+A&amp;cauthor_id=29599784"
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data-ga-label="Ahmet Ozen">Ahmet Ozen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Pediatric Allergy/Immunology, Marmara University, Istanbul, Turkey." href="#full-view-affiliation-8" ref="linksrc=author_aff">
8
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pachlopnik+Schmid+J&amp;cauthor_id=29599784"
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data-ga-label="Jana Pachlopnik Schmid">Jana Pachlopnik Schmid</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Immunology, University Children&#x27;s Hospital Zurich and Children&#x27;s Research Centre, University Zurich, Zurich, Switzerland." href="#full-view-affiliation-31" ref="linksrc=author_aff">
31
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Picard+C&amp;cauthor_id=29599784"
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data-ga-label="Capucine Picard">Capucine Picard</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Medical School, Paris, France." href="#full-view-affiliation-32" ref="linksrc=author_aff">
32
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France." href="#full-view-affiliation-33" ref="linksrc=author_aff">
33
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Prader+S&amp;cauthor_id=29599784"
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data-ga-label="Seraina Prader">Seraina Prader</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Immunology, University Children&#x27;s Hospital Zurich and Children&#x27;s Research Centre, University Zurich, Zurich, Switzerland." href="#full-view-affiliation-31" ref="linksrc=author_aff">
31
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Rae+W&amp;cauthor_id=29599784"
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data-ga-label="William Rae">William Rae</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="NIHR Clinical Research Facility, University Hospital Southampton NHSFT, Southampton, United Kingdom." href="#full-view-affiliation-21" ref="linksrc=author_aff">
21
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Reichenbach+J&amp;cauthor_id=29599784"
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data-ga-label="Janine Reichenbach">Janine Reichenbach</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Immunology, University Children&#x27;s Hospital Zurich and Children&#x27;s Research Centre, University Zurich, Zurich, Switzerland." href="#full-view-affiliation-31" ref="linksrc=author_aff">
31
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Rusch+S&amp;cauthor_id=29599784"
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data-ga-label="Stephan Rusch">Stephan Rusch</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Savic+S&amp;cauthor_id=29599784"
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data-ga-label="Sinisa Savic">Sinisa Savic</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Medical School, Paris, France." href="#full-view-affiliation-32" ref="linksrc=author_aff">
32
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Scarselli+A&amp;cauthor_id=29599784"
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data-ga-label="Alessia Scarselli">Alessia Scarselli</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="University Department of Pediatrics, Bambino Gesù Children&#x27;s Hospital IRCCS, Rome, Italy." href="#full-view-affiliation-11" ref="linksrc=author_aff">
11
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy." href="#full-view-affiliation-12" ref="linksrc=author_aff">
12
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Scheible+R&amp;cauthor_id=29599784"
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data-ga-label="Raphael Scheible">Raphael Scheible</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sediva+A&amp;cauthor_id=29599784"
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data-ga-label="Anna Sediva">Anna Sediva</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Immunology, 2nd Faculty of Medicine Charles University and Motol University Hospital, Prague, Czechia." href="#full-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sharapova+SO&amp;cauthor_id=29599784"
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data-ga-label="Svetlana O Sharapova">Svetlana O Sharapova</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus." href="#full-view-affiliation-6" ref="linksrc=author_aff">
6
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Shcherbina+A&amp;cauthor_id=29599784"
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data-ga-label="Anna Shcherbina">Anna Shcherbina</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Immunology, Research and Clinical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia." href="#full-view-affiliation-28" ref="linksrc=author_aff">
28
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Slatter+M&amp;cauthor_id=29599784"
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data-ga-label="Mary Slatter">Mary Slatter</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy." href="#full-view-affiliation-12" ref="linksrc=author_aff">
12
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Soler-Palacin+P&amp;cauthor_id=29599784"
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data-ga-label="Pere Soler-Palacin">Pere Soler-Palacin</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d&#x27;Hebron, Vall d&#x27;Hebron Research Institute (VHIR), Barcelona, Spain." href="#full-view-affiliation-24" ref="linksrc=author_aff">
24
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<li data-affiliation-id="full-view-affiliation-1"
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><sup class="key">1</sup> Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany.</li>
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><sup class="key">2</sup> Department of Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Freiburg, Germany.</li>
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><sup class="key">3</sup> Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden.</li>
<li data-affiliation-id="full-view-affiliation-4"
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><sup class="key">4</sup> Research Center for Immunodeficiencies, Pediatric Center of Excellence, Children&#x27;s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.</li>
<li data-affiliation-id="full-view-affiliation-5"
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><sup class="key">5</sup> San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.</li>
<li data-affiliation-id="full-view-affiliation-6"
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><sup class="key">6</sup> Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus.</li>
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><sup class="key">7</sup> Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.</li>
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><sup class="key">8</sup> Division of Pediatric Allergy/Immunology, Marmara University, Istanbul, Turkey.</li>
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><sup class="key">9</sup> Cambridge Centre for Lung Defense, Papworth Hospital, Cambridge, United Kingdom.</li>
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><sup class="key">10</sup> Institute of Immunity and Transplantation, Royal Free Hospital, London, United Kingdom.</li>
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><sup class="key">11</sup> University Department of Pediatrics, Bambino Gesù Children&#x27;s Hospital IRCCS, Rome, Italy.</li>
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><sup class="key">12</sup> Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.</li>
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><sup class="key">13</sup> Department of Paediatric Immunology, Newcastle upon Tyne Hospital NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.</li>
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><sup class="key">14</sup> Internal Medicine, University Hospital of Saint-Etienne, Saint-Etienne, France.</li>
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><sup class="key">15</sup> Biotherapy Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children&#x27;s Hospital, Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-16"
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><sup class="key">16</sup> Laboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Imagine Institute, Paris, France.</li>
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><sup class="key">17</sup> Paris Descartes-Sorbonne Paris Cité University, Paris, France.</li>
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><sup class="key">18</sup> Department of Clinical Immunology, Addenbrookes Hospital, Cambridge, United Kingdom.</li>
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><sup class="key">19</sup> Department of Medicine, University of Cambridge, Cambridge, United Kingdom.</li>
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><sup class="key">20</sup> Regional Immunology Service, The Royal Hospitals &amp; Queen&#x27;s University, Belfast, United Kingdom.</li>
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><sup class="key">21</sup> NIHR Clinical Research Facility, University Hospital Southampton NHSFT, Southampton, United Kingdom.</li>
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><sup class="key">22</sup> Department of Pediatric Immunology, Hematology and Rheumatology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children&#x27;s Hospital, Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-23"
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><sup class="key">23</sup> INSERM UMR 1163, Imagine Institute, Paris, France.</li>
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><sup class="key">24</sup> Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d&#x27;Hebron, Vall d&#x27;Hebron Research Institute (VHIR), Barcelona, Spain.</li>
<li data-affiliation-id="full-view-affiliation-25"
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><sup class="key">25</sup> Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom.</li>
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><sup class="key">26</sup> French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.</li>
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><sup class="key">27</sup> Department of Immunology, 2nd Faculty of Medicine Charles University and Motol University Hospital, Prague, Czechia.</li>
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><sup class="key">28</sup> Department of Immunology, Research and Clinical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia.</li>
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><sup class="key">29</sup> Sección de Infectologıa, Rheumatología and Inmunodeficiencias, Unidad de Pediatria, Hospital Virgen del Rocıo, Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain.</li>
<li data-affiliation-id="full-view-affiliation-30"
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><sup class="key">30</sup> Laboratory of Immunogenetics of Pediatric Autoimmunity, INSERM UMR 1163, Imagine Institute, Paris, France.</li>
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><sup class="key">31</sup> Division of Immunology, University Children&#x27;s Hospital Zurich and Children&#x27;s Research Centre, University Zurich, Zurich, Switzerland.</li>
<li data-affiliation-id="full-view-affiliation-32"
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><sup class="key">32</sup> Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Medical School, Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-33"
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><sup class="key">33</sup> Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France.</li>
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><sup class="key">34</sup> Wilhelmina Children&#x27;s Hospital, Utrecht, Netherlands.</li>
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><sup class="key">35</sup> Department of Clinical Immunology and Allergy, St James&#x27;s University Hospital, Leeds, United Kingdom.</li>
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><sup class="key">36</sup> Department of Infection, Immunity and Cardiovascular Science, University of Sheffield, Sheffield, United Kingdom.</li>
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Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry
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<span class="authors-list-item "><span class="full-name">Maria Elena Maccari</span><span class="citation-separator">&nbsp;et al.</span></span>
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data-ga-label="Maria Elena Maccari">Maria Elena Maccari</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Research Center for Immunodeficiencies, Pediatric Center of Excellence, Children&#x27;s Medical Center, Tehran University of Medical Sciences, Tehran, Iran." href="#short-view-affiliation-4" ref="linksrc=author_aff">
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data-ga-label="Olga Aleinikova">Olga Aleinikova</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus." href="#short-view-affiliation-6" ref="linksrc=author_aff">
6
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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7
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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8
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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5
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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9
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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10
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Siobhan O Burns">Siobhan O Burns</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute of Immunity and Transplantation, Royal Free Hospital, London, United Kingdom." href="#short-view-affiliation-10" ref="linksrc=author_aff">
10
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Caterina Cancrini">Caterina Cancrini</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="University Department of Pediatrics, Bambino Gesù Children&#x27;s Hospital IRCCS, Rome, Italy." href="#short-view-affiliation-11" ref="linksrc=author_aff">
11
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy." href="#short-view-affiliation-12" ref="linksrc=author_aff">
12
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Andrew Cant">Andrew Cant</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatric Immunology, Newcastle upon Tyne Hospital NHS Foundation Trust, Newcastle upon Tyne, United Kingdom." href="#short-view-affiliation-13" ref="linksrc=author_aff">
13
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Pascal Cathébras">Pascal Cathébras</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Internal Medicine, University Hospital of Saint-Etienne, Saint-Etienne, France." href="#short-view-affiliation-14" ref="linksrc=author_aff">
14
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Marina Cavazzana">Marina Cavazzana</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Biotherapy Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children&#x27;s Hospital, Paris, France." href="#short-view-affiliation-15" ref="linksrc=author_aff">
15
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Imagine Institute, Paris, France." href="#short-view-affiliation-16" ref="linksrc=author_aff">
16
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Paris, France." href="#short-view-affiliation-17" ref="linksrc=author_aff">
17
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Chandra+A&amp;cauthor_id=29599784"
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data-ga-label="Anita Chandra">Anita Chandra</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Clinical Immunology, Addenbrookes Hospital, Cambridge, United Kingdom." href="#short-view-affiliation-18" ref="linksrc=author_aff">
18
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medicine, University of Cambridge, Cambridge, United Kingdom." href="#short-view-affiliation-19" ref="linksrc=author_aff">
19
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Conti+F&amp;cauthor_id=29599784"
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data-ga-label="Francesca Conti">Francesca Conti</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="University Department of Pediatrics, Bambino Gesù Children&#x27;s Hospital IRCCS, Rome, Italy." href="#short-view-affiliation-11" ref="linksrc=author_aff">
11
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy." href="#short-view-affiliation-12" ref="linksrc=author_aff">
12
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Coulter+T&amp;cauthor_id=29599784"
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data-ga-label="Tanya Coulter">Tanya Coulter</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Regional Immunology Service, The Royal Hospitals &amp; Queen&#x27;s University, Belfast, United Kingdom." href="#short-view-affiliation-20" ref="linksrc=author_aff">
20
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Lisa A Devlin">Lisa A Devlin</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Regional Immunology Service, The Royal Hospitals &amp; Queen&#x27;s University, Belfast, United Kingdom." href="#short-view-affiliation-20" ref="linksrc=author_aff">
20
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="J David M Edgar">J David M Edgar</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Regional Immunology Service, The Royal Hospitals &amp; Queen&#x27;s University, Belfast, United Kingdom." href="#short-view-affiliation-20" ref="linksrc=author_aff">
20
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Saul Faust">Saul Faust</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="NIHR Clinical Research Facility, University Hospital Southampton NHSFT, Southampton, United Kingdom." href="#short-view-affiliation-21" ref="linksrc=author_aff">
21
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Fischer+A&amp;cauthor_id=29599784"
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data-ga-label="Alain Fischer">Alain Fischer</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Paris, France." href="#short-view-affiliation-17" ref="linksrc=author_aff">
17
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatric Immunology, Hematology and Rheumatology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children&#x27;s Hospital, Paris, France." href="#short-view-affiliation-22" ref="linksrc=author_aff">
22
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="INSERM UMR 1163, Imagine Institute, Paris, France." href="#short-view-affiliation-23" ref="linksrc=author_aff">
23
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Marina Garcia-Prat">Marina Garcia-Prat</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d&#x27;Hebron, Vall d&#x27;Hebron Research Institute (VHIR), Barcelona, Spain." href="#short-view-affiliation-24" ref="linksrc=author_aff">
24
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hammarstr%C3%B6m+L&amp;cauthor_id=29599784"
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data-ga-label="Lennart Hammarström">Lennart Hammarström</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden." href="#short-view-affiliation-3" ref="linksrc=author_aff">
3
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Heeg+M&amp;cauthor_id=29599784"
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data-ga-label="Maximilian Heeg">Maximilian Heeg</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Freiburg, Germany." href="#short-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Jolles+S&amp;cauthor_id=29599784"
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data-ga-label="Stephen Jolles">Stephen Jolles</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom." href="#short-view-affiliation-25" ref="linksrc=author_aff">
25
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Elif Karakoc-Aydiner">Elif Karakoc-Aydiner</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Pediatric Allergy/Immunology, Marmara University, Istanbul, Turkey." href="#short-view-affiliation-8" ref="linksrc=author_aff">
8
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kindle+G&amp;cauthor_id=29599784"
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data-ga-label="Gerhard Kindle">Gerhard Kindle</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kiykim+A&amp;cauthor_id=29599784"
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data-ga-label="Ayca Kiykim">Ayca Kiykim</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Pediatric Allergy/Immunology, Marmara University, Istanbul, Turkey." href="#short-view-affiliation-8" ref="linksrc=author_aff">
8
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kumararatne+D&amp;cauthor_id=29599784"
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data-ga-label="Dinakantha Kumararatne">Dinakantha Kumararatne</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Paris, France." href="#short-view-affiliation-17" ref="linksrc=author_aff">
17
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Grimbacher+B&amp;cauthor_id=29599784"
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data-ga-label="Bodo Grimbacher">Bodo Grimbacher</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Longhurst+H&amp;cauthor_id=29599784"
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data-ga-label="Hilary Longhurst">Hilary Longhurst</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute of Immunity and Transplantation, Royal Free Hospital, London, United Kingdom." href="#short-view-affiliation-10" ref="linksrc=author_aff">
10
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Nizar Mahlaoui">Nizar Mahlaoui</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatric Immunology, Hematology and Rheumatology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children&#x27;s Hospital, Paris, France." href="#short-view-affiliation-22" ref="linksrc=author_aff">
22
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France." href="#short-view-affiliation-26" ref="linksrc=author_aff">
26
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Milota+T&amp;cauthor_id=29599784"
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data-ga-label="Tomas Milota">Tomas Milota</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Immunology, 2nd Faculty of Medicine Charles University and Motol University Hospital, Prague, Czechia." href="#short-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Moreira+F&amp;cauthor_id=29599784"
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data-ga-label="Fernando Moreira">Fernando Moreira</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute of Immunity and Transplantation, Royal Free Hospital, London, United Kingdom." href="#short-view-affiliation-10" ref="linksrc=author_aff">
10
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Moshous+D&amp;cauthor_id=29599784"
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data-ga-label="Despina Moshous">Despina Moshous</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Paris, France." href="#short-view-affiliation-17" ref="linksrc=author_aff">
17
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatric Immunology, Hematology and Rheumatology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children&#x27;s Hospital, Paris, France." href="#short-view-affiliation-22" ref="linksrc=author_aff">
22
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="INSERM UMR 1163, Imagine Institute, Paris, France." href="#short-view-affiliation-23" ref="linksrc=author_aff">
23
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mukhina+A&amp;cauthor_id=29599784"
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data-ga-label="Anna Mukhina">Anna Mukhina</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Immunology, Research and Clinical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia." href="#short-view-affiliation-28" ref="linksrc=author_aff">
28
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Neth+O&amp;cauthor_id=29599784"
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data-ga-label="Olaf Neth">Olaf Neth</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sección de Infectologıa, Rheumatología and Inmunodeficiencias, Unidad de Pediatria, Hospital Virgen del Rocıo, Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain." href="#short-view-affiliation-29" ref="linksrc=author_aff">
29
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Neven+B&amp;cauthor_id=29599784"
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data-ga-label="Benedicte Neven">Benedicte Neven</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Paris, France." href="#short-view-affiliation-17" ref="linksrc=author_aff">
17
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatric Immunology, Hematology and Rheumatology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children&#x27;s Hospital, Paris, France." href="#short-view-affiliation-22" ref="linksrc=author_aff">
22
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Immunogenetics of Pediatric Autoimmunity, INSERM UMR 1163, Imagine Institute, Paris, France." href="#short-view-affiliation-30" ref="linksrc=author_aff">
30
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Nieters+A&amp;cauthor_id=29599784"
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data-ga-label="Alexandra Nieters">Alexandra Nieters</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Olbrich+P&amp;cauthor_id=29599784"
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data-ga-label="Peter Olbrich">Peter Olbrich</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sección de Infectologıa, Rheumatología and Inmunodeficiencias, Unidad de Pediatria, Hospital Virgen del Rocıo, Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain." href="#short-view-affiliation-29" ref="linksrc=author_aff">
29
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Ozen+A&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-label="Ahmet Ozen">Ahmet Ozen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Pediatric Allergy/Immunology, Marmara University, Istanbul, Turkey." href="#short-view-affiliation-8" ref="linksrc=author_aff">
8
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pachlopnik+Schmid+J&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-label="Jana Pachlopnik Schmid">Jana Pachlopnik Schmid</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Immunology, University Children&#x27;s Hospital Zurich and Children&#x27;s Research Centre, University Zurich, Zurich, Switzerland." href="#short-view-affiliation-31" ref="linksrc=author_aff">
31
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Picard+C&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-label="Capucine Picard">Capucine Picard</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Medical School, Paris, France." href="#short-view-affiliation-32" ref="linksrc=author_aff">
32
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France." href="#short-view-affiliation-33" ref="linksrc=author_aff">
33
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Prader+S&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-label="Seraina Prader">Seraina Prader</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Immunology, University Children&#x27;s Hospital Zurich and Children&#x27;s Research Centre, University Zurich, Zurich, Switzerland." href="#short-view-affiliation-31" ref="linksrc=author_aff">
31
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Rae+W&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-label="William Rae">William Rae</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="NIHR Clinical Research Facility, University Hospital Southampton NHSFT, Southampton, United Kingdom." href="#short-view-affiliation-21" ref="linksrc=author_aff">
21
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Reichenbach+J&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-label="Janine Reichenbach">Janine Reichenbach</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Immunology, University Children&#x27;s Hospital Zurich and Children&#x27;s Research Centre, University Zurich, Zurich, Switzerland." href="#short-view-affiliation-31" ref="linksrc=author_aff">
31
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Rusch+S&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-label="Stephan Rusch">Stephan Rusch</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Savic+S&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-label="Sinisa Savic">Sinisa Savic</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Medical School, Paris, France." href="#short-view-affiliation-32" ref="linksrc=author_aff">
32
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Scarselli+A&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-label="Alessia Scarselli">Alessia Scarselli</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="University Department of Pediatrics, Bambino Gesù Children&#x27;s Hospital IRCCS, Rome, Italy." href="#short-view-affiliation-11" ref="linksrc=author_aff">
11
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy." href="#short-view-affiliation-12" ref="linksrc=author_aff">
12
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Scheible+R&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-label="Raphael Scheible">Raphael Scheible</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sediva+A&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-label="Anna Sediva">Anna Sediva</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Immunology, 2nd Faculty of Medicine Charles University and Motol University Hospital, Prague, Czechia." href="#short-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sharapova+SO&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-label="Svetlana O Sharapova">Svetlana O Sharapova</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus." href="#short-view-affiliation-6" ref="linksrc=author_aff">
6
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Shcherbina+A&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Anna Shcherbina">Anna Shcherbina</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Immunology, Research and Clinical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia." href="#short-view-affiliation-28" ref="linksrc=author_aff">
28
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Slatter+M&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-label="Mary Slatter">Mary Slatter</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy." href="#short-view-affiliation-12" ref="linksrc=author_aff">
12
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Soler-Palacin+P&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Pere Soler-Palacin">Pere Soler-Palacin</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d&#x27;Hebron, Vall d&#x27;Hebron Research Institute (VHIR), Barcelona, Spain." href="#short-view-affiliation-24" ref="linksrc=author_aff">
24
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Stanislas+A&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-label="Aurelie Stanislas">Aurelie Stanislas</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Biotherapy Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children&#x27;s Hospital, Paris, France." href="#short-view-affiliation-15" ref="linksrc=author_aff">
15
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Suarez+F&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Felipe Suarez">Felipe Suarez</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="INSERM UMR 1163, Imagine Institute, Paris, France." href="#short-view-affiliation-23" ref="linksrc=author_aff">
23
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Tucci+F&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Francesca Tucci">Francesca Tucci</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy." href="#short-view-affiliation-5" ref="linksrc=author_aff">
5
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Uhlmann+A&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Annette Uhlmann">Annette Uhlmann</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=van+Montfrans+J&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Joris van Montfrans">Joris van Montfrans</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Wilhelmina Children&#x27;s Hospital, Utrecht, Netherlands." href="#short-view-affiliation-34" ref="linksrc=author_aff">
34
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Warnatz+K&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Klaus Warnatz">Klaus Warnatz</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Williams+AP&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Anthony Peter Williams">Anthony Peter Williams</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="NIHR Clinical Research Facility, University Hospital Southampton NHSFT, Southampton, United Kingdom." href="#short-view-affiliation-21" ref="linksrc=author_aff">
21
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Wood+P&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Phil Wood">Phil Wood</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Clinical Immunology and Allergy, St James&#x27;s University Hospital, Leeds, United Kingdom." href="#short-view-affiliation-35" ref="linksrc=author_aff">
35
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kracker+S&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Sven Kracker">Sven Kracker</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Imagine Institute, Paris, France." href="#short-view-affiliation-16" ref="linksrc=author_aff">
16
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Paris, France." href="#short-view-affiliation-17" ref="linksrc=author_aff">
17
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Condliffe+AM&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Alison Mary Condliffe">Alison Mary Condliffe</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Infection, Immunity and Cardiovascular Science, University of Sheffield, Sheffield, United Kingdom." href="#short-view-affiliation-36" ref="linksrc=author_aff">
36
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Ehl+S&amp;cauthor_id=29599784"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Stephan Ehl">Stephan Ehl</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Freiburg, Germany." href="#short-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup></span>
</div>
</div>
<div class="affiliations">
<h3 class="title">
Affiliations
</h3>
<ul class="item-list">
<li data-affiliation-id="short-view-affiliation-1"
id="short-view-affiliation-1"
><sup class="key">1</sup> Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany.</li>
<li data-affiliation-id="short-view-affiliation-2"
id="short-view-affiliation-2"
><sup class="key">2</sup> Department of Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Freiburg, Germany.</li>
<li data-affiliation-id="short-view-affiliation-3"
id="short-view-affiliation-3"
><sup class="key">3</sup> Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden.</li>
<li data-affiliation-id="short-view-affiliation-4"
id="short-view-affiliation-4"
><sup class="key">4</sup> Research Center for Immunodeficiencies, Pediatric Center of Excellence, Children&#x27;s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.</li>
<li data-affiliation-id="short-view-affiliation-5"
id="short-view-affiliation-5"
><sup class="key">5</sup> San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.</li>
<li data-affiliation-id="short-view-affiliation-6"
id="short-view-affiliation-6"
><sup class="key">6</sup> Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus.</li>
<li data-affiliation-id="short-view-affiliation-7"
id="short-view-affiliation-7"
><sup class="key">7</sup> Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.</li>
<li data-affiliation-id="short-view-affiliation-8"
id="short-view-affiliation-8"
><sup class="key">8</sup> Division of Pediatric Allergy/Immunology, Marmara University, Istanbul, Turkey.</li>
<li data-affiliation-id="short-view-affiliation-9"
id="short-view-affiliation-9"
><sup class="key">9</sup> Cambridge Centre for Lung Defense, Papworth Hospital, Cambridge, United Kingdom.</li>
<li data-affiliation-id="short-view-affiliation-10"
id="short-view-affiliation-10"
><sup class="key">10</sup> Institute of Immunity and Transplantation, Royal Free Hospital, London, United Kingdom.</li>
<li data-affiliation-id="short-view-affiliation-11"
id="short-view-affiliation-11"
><sup class="key">11</sup> University Department of Pediatrics, Bambino Gesù Children&#x27;s Hospital IRCCS, Rome, Italy.</li>
<li data-affiliation-id="short-view-affiliation-12"
id="short-view-affiliation-12"
><sup class="key">12</sup> Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.</li>
<li data-affiliation-id="short-view-affiliation-13"
id="short-view-affiliation-13"
><sup class="key">13</sup> Department of Paediatric Immunology, Newcastle upon Tyne Hospital NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.</li>
<li data-affiliation-id="short-view-affiliation-14"
id="short-view-affiliation-14"
><sup class="key">14</sup> Internal Medicine, University Hospital of Saint-Etienne, Saint-Etienne, France.</li>
<li data-affiliation-id="short-view-affiliation-15"
id="short-view-affiliation-15"
><sup class="key">15</sup> Biotherapy Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children&#x27;s Hospital, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-16"
id="short-view-affiliation-16"
><sup class="key">16</sup> Laboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Imagine Institute, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-17"
id="short-view-affiliation-17"
><sup class="key">17</sup> Paris Descartes-Sorbonne Paris Cité University, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-18"
id="short-view-affiliation-18"
><sup class="key">18</sup> Department of Clinical Immunology, Addenbrookes Hospital, Cambridge, United Kingdom.</li>
<li data-affiliation-id="short-view-affiliation-19"
id="short-view-affiliation-19"
><sup class="key">19</sup> Department of Medicine, University of Cambridge, Cambridge, United Kingdom.</li>
<li data-affiliation-id="short-view-affiliation-20"
id="short-view-affiliation-20"
><sup class="key">20</sup> Regional Immunology Service, The Royal Hospitals &amp; Queen&#x27;s University, Belfast, United Kingdom.</li>
<li data-affiliation-id="short-view-affiliation-21"
id="short-view-affiliation-21"
><sup class="key">21</sup> NIHR Clinical Research Facility, University Hospital Southampton NHSFT, Southampton, United Kingdom.</li>
<li data-affiliation-id="short-view-affiliation-22"
id="short-view-affiliation-22"
><sup class="key">22</sup> Department of Pediatric Immunology, Hematology and Rheumatology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Children&#x27;s Hospital, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-23"
id="short-view-affiliation-23"
><sup class="key">23</sup> INSERM UMR 1163, Imagine Institute, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-24"
id="short-view-affiliation-24"
><sup class="key">24</sup> Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d&#x27;Hebron, Vall d&#x27;Hebron Research Institute (VHIR), Barcelona, Spain.</li>
<li data-affiliation-id="short-view-affiliation-25"
id="short-view-affiliation-25"
><sup class="key">25</sup> Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom.</li>
<li data-affiliation-id="short-view-affiliation-26"
id="short-view-affiliation-26"
><sup class="key">26</sup> French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-27"
id="short-view-affiliation-27"
><sup class="key">27</sup> Department of Immunology, 2nd Faculty of Medicine Charles University and Motol University Hospital, Prague, Czechia.</li>
<li data-affiliation-id="short-view-affiliation-28"
id="short-view-affiliation-28"
><sup class="key">28</sup> Department of Immunology, Research and Clinical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia.</li>
<li data-affiliation-id="short-view-affiliation-29"
id="short-view-affiliation-29"
><sup class="key">29</sup> Sección de Infectologıa, Rheumatología and Inmunodeficiencias, Unidad de Pediatria, Hospital Virgen del Rocıo, Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain.</li>
<li data-affiliation-id="short-view-affiliation-30"
id="short-view-affiliation-30"
><sup class="key">30</sup> Laboratory of Immunogenetics of Pediatric Autoimmunity, INSERM UMR 1163, Imagine Institute, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-31"
id="short-view-affiliation-31"
><sup class="key">31</sup> Division of Immunology, University Children&#x27;s Hospital Zurich and Children&#x27;s Research Centre, University Zurich, Zurich, Switzerland.</li>
<li data-affiliation-id="short-view-affiliation-32"
id="short-view-affiliation-32"
><sup class="key">32</sup> Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Medical School, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-33"
id="short-view-affiliation-33"
><sup class="key">33</sup> Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-34"
id="short-view-affiliation-34"
><sup class="key">34</sup> Wilhelmina Children&#x27;s Hospital, Utrecht, Netherlands.</li>
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Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal dominant mutations in <i>PIK3CD</i> (APDS1) or <i>PIK3R1</i> (APDS2), is a heterogeneous primary immunodeficiency. While initial cohort-descriptions summarized the spectrum of clinical and immunological manifestations, questions about long-term disease evolution and response to therapy remain. The prospective European Society for Immunodeficiencies (ESID)-APDS registry aims to characterize the disease course, identify outcome predictors, and evaluate treatment responses. So far, 77 patients have been recruited (51 APDS1, 26 APDS2). Analysis of disease evolution in the first 68 patients pinpoints the early occurrence of recurrent respiratory infections followed by chronic lymphoproliferation, gastrointestinal manifestations, and cytopenias. Although most manifestations occur by age 15, adult-onset and asymptomatic courses were documented. Bronchiectasis was observed in 24/40 APDS1 patients who received a CT-scan compared with 4/15 APDS2 patients. By age 20, half of the patients had received at least one immunosuppressant, but 2-3 lines of immunosuppressive therapy were not unusual before age 10. Response to rapamycin was rated by physician visual analog scale as good in 10, moderate in 9, and poor in 7. Lymphoproliferation showed the best response (8 complete, 11 partial, 6 no remission), while bowel inflammation (3 complete, 3 partial, 9 no remission) and cytopenia (3 complete, 2 partial, 9 no remission) responded less well. Hence, non-lymphoproliferative manifestations should be a key target for novel therapies. This report from the ESID-APDS registry provides comprehensive baseline documentation for a growing cohort that will be followed prospectively to establish prognostic factors and identify patients for treatment studies.
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PIK3CD; PIK3R1; activated phosphoinositide 3-kinase δ syndrome; natural history; rapamycin; registry.
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<div class="figure-caption-contents"><b> (A) </b> Incidence of infections in…</div>
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<p> Figure 1 </p>
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<div class="figure-caption-contents"><b> (A) </b> Incidence of infections in APDS1 and APDS2 patients. <b> (B) </b> Incidence of manifestations…</div>
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Figure 1
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<div class="figure-caption-contents"><b>(A)</b> Incidence of infections in APDS1 and APDS2 patients.
<b>(B)</b> Incidence of manifestations of immune dysregulation in
APDS1 and APDS2 patients. <b>(C)</b>Evolution of disease
manifestations over time. Information regarding age at onset available for:
respiratory infections <i>n</i>=62/65,
lymphoproliferation <i>n</i>=59/59,
gastrointestinal manifestations
<i>n</i>=33/35, cytopenia
<i>n</i>=20/21 patients.
<b>(D)</b> Diagram showing the different types of benign
lymphoproliferative manifestations. <b>(E)</b>Diagram showing
the different blood lineages affected in patients with cytopenias.</div>
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<div class="figure-caption-contents"><b> (A) </b> Use of treatment modalities over time. IGRT, immunoglobulin-replacement-treatment; IS, immunosuppressive drug; HSCT,…</div>
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<div class="figure-caption-contents"><b>(A)</b> Use of treatment modalities over time. IGRT,
immunoglobulin-replacement-treatment; IS, immunosuppressive drug; HSCT,
hematopoietic stem cell transplantation. Information regarding age at first
therapy available for: IGRT <i>n</i>=28/44,
steroid therapy <i>n</i>=31/31, IS therapy
<i>n</i>=35/36,
HSCT=8/8. <b>(B)</b> Number of lines of
immunosuppressive treatments (steroids, immunosuppressive drugs, rituximab) by
the time of registration; red: patients who had undergone HSCT by the time of
registration. <b>(C)</b> Response to rapamycin treatment.
<i>White</i>: complete response; <i>gray</i>: partial
response; <i>black</i>: no response; <i>red</i>: worsened
or new manifestation; <i>boxes with a diagonal</i>: manifestation not
present in this patient. CR, complete remission; PR, partial remission.
Rapamycin stopped because of: *non-compliance, °inefficiency,
<sup>^</sup>side effects, <sup>§</sup>clinical trial.
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physicians evaluation.</div>
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<div id="supplementary-concepts" class="supplementary-concepts keywords-section">
<h2 class="title">
Supplementary concepts
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<div id="related-links" class="related-links">
<h2 class="title">
Related information
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<ul class="related-links-list"><li><a title="PubMed links associated with Books" href="https://www.ncbi.nlm.nih.gov/books?linkname=pubmed_books_refs&amp;from_uid=29599784"
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MedGen (Bookshelf cited)
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PubChem Compound (MeSH Keyword)
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