U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Immunodeficiency syndrome with autoimmunity

MedGen UID:
1842186
Concept ID:
C5680460
Disease or Syndrome
Orphanet: ORPHA169355

Professional guidelines

PubMed

Stier EA, Clarke MA, Deshmukh AA, Wentzensen N, Liu Y, Poynten IM, Cavallari EN, Fink V, Barroso LF, Clifford GM, Cuming T, Goldstone SE, Hillman RJ, Rosa-Cunha I, La Rosa L, Palefsky JM, Plotzker R, Roberts JM, Jay N
Int J Cancer 2024 May 15;154(10):1694-1702. Epub 2024 Jan 31 doi: 10.1002/ijc.34850. PMID: 38297406
Biggs SE, Gilchrist B, May KR
Curr Allergy Asthma Rep 2023 Apr;23(4):213-222. Epub 2023 Mar 10 doi: 10.1007/s11882-023-01071-4. PMID: 36897497Free PMC Article
Otani IM, Lehman HK, Jongco AM, Tsao LR, Azar AE, Tarrant TK, Engel E, Walter JE, Truong TQ, Khan DA, Ballow M, Cunningham-Rundles C, Lu H, Kwan M, Barmettler S
J Allergy Clin Immunol 2022 May;149(5):1525-1560. Epub 2022 Feb 14 doi: 10.1016/j.jaci.2022.01.025. PMID: 35176351

Recent clinical studies

Etiology

Remiker A, Bolling K, Verbsky J
Med Clin North Am 2024 Jan;108(1):107-121. Epub 2023 Jul 21 doi: 10.1016/j.mcna.2023.06.012. PMID: 37951645
Otani IM, Lehman HK, Jongco AM, Tsao LR, Azar AE, Tarrant TK, Engel E, Walter JE, Truong TQ, Khan DA, Ballow M, Cunningham-Rundles C, Lu H, Kwan M, Barmettler S
J Allergy Clin Immunol 2022 May;149(5):1525-1560. Epub 2022 Feb 14 doi: 10.1016/j.jaci.2022.01.025. PMID: 35176351
Shih HP, Ding JY, Yeh CF, Chi CY, Ku CL
Curr Opin Immunol 2021 Oct;72:206-214. Epub 2021 Jun 25 doi: 10.1016/j.coi.2021.05.007. PMID: 34175547
Perez EE, Orange JS, Bonilla F, Chinen J, Chinn IK, Dorsey M, El-Gamal Y, Harville TO, Hossny E, Mazer B, Nelson R, Secord E, Jordan SC, Stiehm ER, Vo AA, Ballow M
J Allergy Clin Immunol 2017 Mar;139(3S):S1-S46. Epub 2016 Dec 29 doi: 10.1016/j.jaci.2016.09.023. PMID: 28041678
Todoric K, Koontz JB, Mattox D, Tarrant TK
Curr Allergy Asthma Rep 2013 Aug;13(4):361-70. doi: 10.1007/s11882-013-0350-3. PMID: 23591608Free PMC Article

Diagnosis

Remiker A, Bolling K, Verbsky J
Med Clin North Am 2024 Jan;108(1):107-121. Epub 2023 Jul 21 doi: 10.1016/j.mcna.2023.06.012. PMID: 37951645
Gray PE, David C
J Allergy Clin Immunol Pract 2023 Jun;11(6):1602-1622. Epub 2023 Apr 28 doi: 10.1016/j.jaip.2023.04.018. PMID: 37119983
Long A, Kleiner A, Looney RJ
J Allergy Clin Immunol 2023 Jan;151(1):70-80. doi: 10.1016/j.jaci.2022.11.001. PMID: 36608984
Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Torgerson TR, Casanova JL, Sullivan KE, Tangye SG
J Clin Immunol 2020 Jan;40(1):66-81. Epub 2020 Feb 11 doi: 10.1007/s10875-020-00758-x. PMID: 32048120Free PMC Article
Amaya-Uribe L, Rojas M, Azizi G, Anaya JM, Gershwin ME
J Autoimmun 2019 May;99:52-72. Epub 2019 Feb 20 doi: 10.1016/j.jaut.2019.01.011. PMID: 30795880

Therapy

Cohen Tervaert JW, Mohazab N, Redmond D, van Eeden C, Osman M
Expert Rev Clin Immunol 2022 Jan;18(1):15-29. Epub 2022 Jan 5 doi: 10.1080/1744666X.2022.2010546. PMID: 34882509
Yamazaki-Nakashimada MA, Unzueta A, Berenise Gámez-González L, González-Saldaña N, Sorensen RU
Hum Vaccin Immunother 2020 Aug 2;16(8):1841-1850. Epub 2020 Jan 29 doi: 10.1080/21645515.2019.1706930. PMID: 31995448Free PMC Article
Perez EE, Orange JS, Bonilla F, Chinen J, Chinn IK, Dorsey M, El-Gamal Y, Harville TO, Hossny E, Mazer B, Nelson R, Secord E, Jordan SC, Stiehm ER, Vo AA, Ballow M
J Allergy Clin Immunol 2017 Mar;139(3S):S1-S46. Epub 2016 Dec 29 doi: 10.1016/j.jaci.2016.09.023. PMID: 28041678
Vincent FB, Saulep-Easton D, Figgett WA, Fairfax KA, Mackay F
Cytokine Growth Factor Rev 2013 Jun;24(3):203-15. Epub 2013 May 15 doi: 10.1016/j.cytogfr.2013.04.003. PMID: 23684423Free PMC Article
Poser CM
Med Clin North Am 1979 Jul;63(4):729-43. doi: 10.1016/s0025-7125(16)31671-6. PMID: 381806Free PMC Article

Prognosis

Gray PE, David C
J Allergy Clin Immunol Pract 2023 Jun;11(6):1602-1622. Epub 2023 Apr 28 doi: 10.1016/j.jaip.2023.04.018. PMID: 37119983
Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, Aghamohammadi A
Clin Immunol 2019 Jan;198:19-30. Epub 2018 Nov 13 doi: 10.1016/j.clim.2018.11.007. PMID: 30439505
Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. PMID: 27763681
Raje N, Dinakar C
Immunol Allergy Clin North Am 2015 Nov;35(4):599-623. Epub 2015 Aug 25 doi: 10.1016/j.iac.2015.07.001. PMID: 26454309Free PMC Article
LeBien TW, Tedder TF
Blood 2008 Sep 1;112(5):1570-80. doi: 10.1182/blood-2008-02-078071. PMID: 18725575Free PMC Article

Clinical prediction guides

Baysac K, Sun G, Nakano H, Schmitz EG, Cruz AC, Fisher C, Bailey AC; PLCG2-Immune Dysregulation Working Group, Mace E, Milner JD, Ombrello MJ
J Allergy Clin Immunol 2024 Jan;153(1):230-242. Epub 2023 Sep 26 doi: 10.1016/j.jaci.2023.08.036. PMID: 37769878Free PMC Article
Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, Stolzenberg MC, Brunaud C, Panikulam P, Riller Q, Moya-Nilges M, Solarz J, Repérant C, Durel B, Bordet JC, Pellé O, Lebreton C, Magérus A, Pirabakaran V, Vargas P, Dupichaud S, Jeanpierre M, Vinit A, Zarhrate M, Masson C, Aladjidi N, Arkwright PD, Bader-Meunier B, Baron Joly S, Benadiba J, Bernard E, Berrebi D, Bodemer C, Castelle M, Charbit-Henrion F, Chbihi M, Debray A, Drabent P, Fraitag S, Hié M, Landman-Parker J, Lhermitte L, Moshous D, Rohrlich P, Ruemmele F, Welfringer-Morin A, Tusseau M, Belot A, Cerf-Bensussan N, Roelens M, Picard C, Neven B, Fischer A, Callebaut I, Ménager M, Sepulveda FE, Adam F, Rieux-Laucat F
Blood 2023 Jun 1;141(22):2713-2726. doi: 10.1182/blood.2022018486. PMID: 36952639
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
Shih HP, Ding JY, Yeh CF, Chi CY, Ku CL
Curr Opin Immunol 2021 Oct;72:206-214. Epub 2021 Jun 25 doi: 10.1016/j.coi.2021.05.007. PMID: 34175547
LeBien TW, Tedder TF
Blood 2008 Sep 1;112(5):1570-80. doi: 10.1182/blood-2008-02-078071. PMID: 18725575Free PMC Article

Recent systematic reviews

López-Nevado M, González-Granado LI, Ruiz-García R, Pleguezuelo D, Cabrera-Marante O, Salmón N, Blanco-Lobo P, Domínguez-Pinilla N, Rodríguez-Pena R, Sebastián E, Cruz-Rojo J, Olbrich P, Ruiz-Contreras J, Paz-Artal E, Neth O, Allende LM
Front Immunol 2021;12:671755. Epub 2021 Aug 10 doi: 10.3389/fimmu.2021.671755. PMID: 34447369Free PMC Article
Rizvi FS, Zainaldain H, Rafiemanesh H, Jamee M, Hossein-Khannazer N, Hamedifar H, Sabzevari A, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G
Expert Rev Clin Immunol 2020 Dec;16(12):1227-1235. Epub 2020 Dec 7 doi: 10.1080/1744666X.2021.1850272. PMID: 33203275
Jamee M, Moniri S, Zaki-Dizaji M, Olbrich P, Yazdani R, Jadidi-Niaragh F, Aghamahdi F, Abolhassani H, Condliffe AM, Aghamohammadi A, Azizi G
Clin Rev Allergy Immunol 2020 Dec;59(3):323-333. doi: 10.1007/s12016-019-08738-9. PMID: 31111319
Kiaee F, Azizi G, Rafiemanesh H, Zainaldain H, Sadaat Rizvi F, Alizadeh M, Jamee M, Mohammadi S, Habibi S, Sharifi L, Jadidi-Niaragh F, Haghi S, Yazdani R, Abolhassani H, Aghamohammadi A
Expert Rev Clin Immunol 2019 Oct;15(10):1105-1113. Epub 2019 Sep 15 doi: 10.1080/1744666X.2019.1658523. PMID: 31452405
Pastori D, Esposito A, Mezzaroma I
Int Rev Immunol 2011 Feb;30(1):44-66. Epub 2010 Dec 20 doi: 10.3109/08830185.2010.529975. PMID: 21171862

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...