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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

Morphologic differential diagnosis of juvenile myelomonocytic leukemia--pitfalls apart from viral infection.
Karow A, Baumann I, Niemeyer CM
J Pediatr Hematol Oncol 2009 May;31(5):380. doi: 10.1097/MPH.0b013e31819ed260. PMID: 19415027
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

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
Efficiency of different fragment lengths of the ubiquitous chromatin opening element HNRPA2B1-CBX3 in driving human CD18 gene expression within self-inactivating lentiviral vectors for gene therapy applications.
Gopinath C, Chodisetty S, Ghosh A, Nelson EJR
Gene 2019 Aug 20;710:265-272. Epub 2019 Jun 11 doi: 10.1016/j.gene.2019.06.016. PMID: 31200085
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
Prenatal diagnosis of LAD-I on cord blood by flowcytometry.
Madkaikar MR, Gupta M, Rao M, Ghosh K
Indian J Pediatr 2012 Dec;79(12):1605-9. Epub 2012 Apr 4 doi: 10.1007/s12098-012-0737-5. PMID: 22477041
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
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
Diagnostic assays for chronic granulomatous disease and other neutrophil disorders.
Elloumi HZ, Holland SM
Methods Mol Biol 2007;412:505-23. doi: 10.1007/978-1-59745-467-4_31. PMID: 18453131

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

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
Congenital CMV with LAD type 1 and NK cell deficiency.
Rai N, Thakur N
J Pediatr Hematol Oncol 2013 Aug;35(6):468-9. doi: 10.1097/MPH.0b013e31827e57b2. PMID: 23337546
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
Decreased availability of GDP-L-fucose in a patient with LAD II with normal GDP-D-mannose dehydratase and FX protein activities.
Körner C, Linnebank M, Koch HG, Harms E, von Figura K, Marquardt T
J Leukoc Biol 1999 Jul;66(1):95-8. doi: 10.1002/jlb.66.1.95. PMID: 10410995
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

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