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Leukocyte-Adhesion Deficiency Syndrome

MedGen UID:
66116
•Concept ID:
C0242597
•
Disease or Syndrome
Synonyms: Deficiency Syndrome, Leukocyte Adhesion; Deficiency Syndrome, Leukocyte-Adhesion; Leukocyte Adhesion Deficiency Syndrome; Leukocyte-Adhesion Deficiency Syndromes

Definition

Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLeukocyte-Adhesion Deficiency Syndrome
Follow this link to review classifications for Leukocyte-Adhesion Deficiency Syndrome in Orphanet.

Professional guidelines

PubMed

Neutrophil disorders and their management.
Lakshman R, Finn A
J Clin Pathol 2001 Jan;54(1):7-19. doi: 10.1136/jcp.54.1.7. PMID: 11271792Free 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
Review: clinical and laboratory approach to the management of neutrophil dysfunction.
Wolach B, Baehner RL, Boxer LA
Isr J Med Sci 1982 Sep;18(9):897-916. PMID: 6754659

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
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D, van Leeuwen K, Madkaikar M, Kambli PM, Gupta M, Mathews V, Rawat A, Kuhns DB, Holland SM, de Boer M, Kanegane H, Parvaneh N, Lorenz M, Schwarz K, Klein C, Sherkat R, Jafari M, Wolach B, den Dunnen JT, Kuijpers TW, Köker MY
Blood Cells Mol Dis 2023 Mar;99:102726. Epub 2023 Jan 20 doi: 10.1016/j.bcmd.2023.102726. PMID: 36696755
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 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
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
Leucocyte adhesion deficiency-1.
Simon A, Pillai S, Raghupathy P, Chandy M
Indian Pediatr 2002 Oct;39(10):963-6. PMID: 12428044

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
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
Random locomotion and chemotaxis of human blood polymorphonuclear leukocytes from a patient with leukocyte adhesion deficiency-1: normal displacement in close quarters via chimneying.
Malawista SE, de Boisfleury Chevance A, Boxer LA
Cell Motil Cytoskeleton 2000 Jul;46(3):183-9. doi: 10.1002/1097-0169(200007)46:3<183::AID-CM3>3.0.CO;2-2. PMID: 10913965

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