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
The current clinical revolution. Applications of gene therapy in treatment of disease.
Worden M
Physician Assist 1994 May;18(5):83-8. PMID: 10134065

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
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
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
LAD-III, a novel group of leukocyte integrin activation deficiencies.
Alon R, Etzioni A
Trends Immunol 2003 Oct;24(10):561-6. doi: 10.1016/j.it.2003.08.001. PMID: 14552841
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

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
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
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

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
Case 1: Recurrent Omphalitis and Nonhealing Ulcers in a 7-month-old Girl.
Sivathanu S, Sampath S, Sridhar I
Pediatr Rev 2016 Nov;37(11):491-493. doi: 10.1542/pir.2016-0017. PMID: 27803145
Gum disease reversed in LAD patients.
Pacey L
Br Dent J 2014 Jun;216(12):657. doi: 10.1038/sj.bdj.2014.507. PMID: 24970504
Influences of systemic diseases on periodontitis in children and adolescents.
Meyle J, Gonzáles JR
Periodontol 2000 2001;26:92-112. doi: 10.1034/j.1600-0757.2001.2260105.x. PMID: 11452908
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

Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders.
Manukjan G, Wiegering VA, Reindl T, Strauß G, Klopocki E, Schulze H, Andres O
Pediatr Blood Cancer 2020 Feb;67(2):e28078. Epub 2019 Nov 14 doi: 10.1002/pbc.28078. PMID: 31724816
Case 1: Recurrent Omphalitis and Nonhealing Ulcers in a 7-month-old Girl.
Sivathanu S, Sampath S, Sridhar I
Pediatr Rev 2016 Nov;37(11):491-493. doi: 10.1542/pir.2016-0017. PMID: 27803145
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
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
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

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
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
Fibrinogen induces IL-8 synthesis in human neutrophils stimulated with formyl-methionyl-leucyl-phenylalanine or leukotriene B(4).
Kuhns DB, Nelson EL, Alvord WG, Gallin JI
J Immunol 2001 Sep 1;167(5):2869-78. doi: 10.4049/jimmunol.167.5.2869. PMID: 11509634
An improved DNA test for bovine leucocyte adhesion deficiency.
Tammen I, Klippert H, Kuczka A, Treviranus A, Pohlenz J, Stöber M, Simon D, Harlizius B
Res Vet Sci 1996 May;60(3):218-21. doi: 10.1016/s0034-5288(96)90042-9. PMID: 8735510
Human immunodeficiency virus (HIV) infection in CD4+ T lymphocytes genetically deficient in LFA-1: LFA-1 is required for HIV-mediated cell fusion but not for viral transmission.
Pantaleo G, Butini L, Graziosi C, Poli G, Schnittman SM, Greenhouse JJ, Gallin JI, Fauci AS
J Exp Med 1991 Feb 1;173(2):511-4. doi: 10.1084/jem.173.2.511. PMID: 1671082Free 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...