U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Leukocyte adhesion deficiency

MedGen UID:
124419
•Concept ID:
C0272187
•
Disease or Syndrome
Synonyms: congenital leukocyte adherence deficiency; LAD; Leukocyte Adhesion Deficiency; leukocyte adhesion deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related genes: FERMT3, SLC35C1, ITGB2
 
Monarch Initiative: MONDO:0017570
Orphanet: ORPHA2968

Definition

Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. [from ORDO]

Professional guidelines

PubMed

Who's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry.
Méndez Barrera JA, Rocha Guzmán S, Hierro Cascajares E, Garabedian EK, Fuleihan RL, Sullivan KE, Lugo Reyes SO
Clin Immunol 2023 Oct;255:109759. Epub 2023 Sep 9 doi: 10.1016/j.clim.2023.109759. PMID: 37678719
CIN or not: An approach to the evaluation and management of chronic idiopathic neutrophilia.
Otieno SB, Altahan A, Karri S, Kaweeta F, Lands L, Weir A
Blood Rev 2021 Mar;46:100739. Epub 2020 Aug 5 doi: 10.1016/j.blre.2020.100739. PMID: 32811689
Prepubertal periodontitis: a review of diagnostic criteria, pathogenesis, and differential diagnosis.
Watanabe K
J Periodontal Res 1990 Jan;25(1):31-48. doi: 10.1111/j.1600-0765.1990.tb01205.x. PMID: 2137170

Recent clinical studies

Etiology

Clinical and functional spectrum of RAC2-related immunodeficiency.
Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Seppänen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP
Blood 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. PMID: 38194689Free PMC Article
New developments in neutrophil biology and periodontitis.
Hajishengallis G
Periodontol 2000 2020 Feb;82(1):78-92. doi: 10.1111/prd.12313. PMID: 31850633
The Oral Microbiota Is Modified by Systemic Diseases.
Graves DT, Corrêa JD, Silva TA
J Dent Res 2019 Feb;98(2):148-156. Epub 2018 Oct 25 doi: 10.1177/0022034518805739. PMID: 30359170Free PMC Article
Leukocyte adhesion deficiency II. Advances and open questions.
Yakubenia S, Wild MK
FEBS J 2006 Oct;273(19):4390-8. Epub 2006 Sep 5 doi: 10.1111/j.1742-4658.2006.05438.x. PMID: 16956371
Periodontal implications of immunodeficient states: manifestations and management.
Pattni R, Walsh LJ, Marshall RI, Seymour GJ, Bartold PM
J Int Acad Periodontol 2000 Jul;2(3):79-93. PMID: 12666965

Diagnosis

Primary Immunodeficiencies With Defects in Innate Immunity: Focus on Orofacial Manifestations.
Jung S, Gies V, Korganow AS, Guffroy A
Front Immunol 2020;11:1065. Epub 2020 Jun 18 doi: 10.3389/fimmu.2020.01065. PMID: 32625202Free PMC Article
Neutrophil homeostasis and inflammation: novel paradigms from studying periodontitis.
Hajishengallis G, Chavakis T, Hajishengallis E, Lambris JD
J Leukoc Biol 2015 Oct;98(4):539-48. Epub 2014 Dec 29 doi: 10.1189/jlb.3VMR1014-468R. PMID: 25548253Free PMC Article
Animal models of human granulocyte diseases.
Schäffer AA, Klein C
Hematol Oncol Clin North Am 2013 Feb;27(1):129-48, ix. Epub 2012 Oct 31 doi: 10.1016/j.hoc.2012.10.005. PMID: 23351993Free PMC Article
Leukocyte adhesion deficiencies.
van de Vijver E, van den Berg TK, Kuijpers TW
Hematol Oncol Clin North Am 2013 Feb;27(1):101-16, viii. Epub 2012 Nov 13 doi: 10.1016/j.hoc.2012.10.001. PMID: 23351991
Educational paper: Defects in number and function of neutrophilic granulocytes causing primary immunodeficiency.
van den Berg JM, Kuijpers TW
Eur J Pediatr 2011 Nov;170(11):1369-76. Epub 2011 Oct 4 doi: 10.1007/s00431-011-1584-5. PMID: 21968907Free PMC Article

Therapy

Clinical and functional spectrum of RAC2-related immunodeficiency.
Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Seppänen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP
Blood 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. PMID: 38194689Free PMC Article
Hematopoetic stem cell transplantation in neutrophil disorders: severe congenital neutropenia, leukocyte adhesion deficiency and chronic granulomatous disease.
Elhasid R, Rowe JM
Clin Rev Allergy Immunol 2010 Feb;38(1):61-7. doi: 10.1007/s12016-009-8129-y. PMID: 19452286
The role of fucosylation in leukocyte adhesion deficiency II.
Vestweber D, Lühn K, Marquardt T, Wild M
Ernst Schering Res Found Workshop 2004;(44):53-74. doi: 10.1007/978-3-662-05397-3_4. PMID: 14579774
Golgi nucleotide sugar transport and leukocyte adhesion deficiency II.
Hirschberg CB
J Clin Invest 2001 Jul;108(1):3-6. doi: 10.1172/JCI13480. PMID: 11435449Free PMC Article
Periodontal implications of immunodeficient states: manifestations and management.
Pattni R, Walsh LJ, Marshall RI, Seymour GJ, Bartold PM
J Int Acad Periodontol 2000 Jul;2(3):79-93. PMID: 12666965

Prognosis

Leukocyte adhesion deficiencies.
van de Vijver E, van den Berg TK, Kuijpers TW
Hematol Oncol Clin North Am 2013 Feb;27(1):101-16, viii. Epub 2012 Nov 13 doi: 10.1016/j.hoc.2012.10.001. PMID: 23351991
Delayed wound healing in leukocyte adhesion deficiency type 1.
Wada T, Tone Y, Shibata F, Toma T, Yachie A
J Pediatr 2011 Feb;158(2):342. Epub 2010 Sep 16 doi: 10.1016/j.jpeds.2010.07.057. PMID: 20843524
Leukocyte adhesion defect.
Tipu HN, Tahir A, Ahmed TA, Hazir T, Waqar MA
J Pak Med Assoc 2008 Nov;58(11):643-5. PMID: 19024141
Leukocyte adhesion deficiency type II: long-term follow-up.
Etzioni A, Gershoni-Baruch R, Pollack S, Shehadeh N
J Allergy Clin Immunol 1998 Aug;102(2):323-4. doi: 10.1016/s0091-6749(98)70104-6. PMID: 9723680
Leukocyte adhesion deficiency mimicking Hirschsprung disease.
Rivera-Matos IR, Rakita RM, Mariscalco MM, Elder FF, Dreyer SA, Cleary TG
J Pediatr 1995 Nov;127(5):755-7. doi: 10.1016/s0022-3476(95)70169-9. PMID: 7472832

Clinical prediction guides

Clinical and functional spectrum of RAC2-related immunodeficiency.
Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Seppänen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP
Blood 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. PMID: 38194689Free PMC Article
Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey.
Yaz I, Ozbek B, Bildik HN, Tan C, Oskay Halacli S, Soyak Aytekin E, Esenboga S, Cekic S, Kilic SS, Keskin O, van Leeuwen K, Roos D, Cagdas D, Tezcan I
Clin Exp Immunol 2021 Oct;206(1):47-55. Epub 2021 Aug 5 doi: 10.1111/cei.13645. PMID: 34310689Free PMC Article
Neutrophil phenotypes in chronic lung disease.
Hughes MJ, Sapey E, Stockley R
Expert Rev Respir Med 2019 Oct;13(10):951-967. Epub 2019 Aug 21 doi: 10.1080/17476348.2019.1654377. PMID: 31394045
Immune and regulatory functions of neutrophils in inflammatory bone loss.
Hajishengallis G, Moutsopoulos NM, Hajishengallis E, Chavakis T
Semin Immunol 2016 Apr;28(2):146-58. Epub 2016 Feb 28 doi: 10.1016/j.smim.2016.02.002. PMID: 26936034Free PMC Article
Rac GTPases in human diseases.
Pai SY, Kim C, Williams DA
Dis Markers 2010;29(3-4):177-87. doi: 10.3233/DMA-2010-0738. PMID: 21178276Free PMC Article

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.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...