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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: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	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]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLeukocyte adhesion deficiency

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Congenital Disorder of Natural Immunity
        Leukocyte adhesion deficiency
        Leukocyte adhesion deficiency 1
        Leukocyte adhesion deficiency 3
        Leukocyte adhesion deficiency type II

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

Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation.

Stepensky PY, Wolach B, Gavrieli R, Rousso S, Ben Ami T, Goldman V, Rozovsky K, Hanna S, Etzioni A, Weintraub M
J Pediatr Hematol Oncol 2015 May;37(4):264-8. doi: 10.1097/MPH.0000000000000228. PMID: 25072369

See all (9)

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, Sepännen 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: 38194689 Free 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

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: 30359170 Free PMC Article

Hematologically important mutations: leukocyte adhesion deficiency (first update).

van de Vijver E, Maddalena A, Sanal Ö, Holland SM, Uzel G, Madkaikar M, de Boer M, van Leeuwen K, Köker MY, Parvaneh N, Fischer A, Law SK, Klein N, Tezcan FI, Unal E, Patiroglu T, Belohradsky BH, Schwartz K, Somech R, Kuijpers TW, Roos D
Blood Cells Mol Dis 2012 Jan 15;48(1):53-61. Epub 2011 Nov 30 doi: 10.1016/j.bcmd.2011.10.004. PMID: 22134107 Free PMC Article

See all (78)

Diagnosis

Clinical and immunological characteristics of 69 leukocyte adhesion deficiency-I patients.

Fazlollahi MR, Hamidieh AA, Moradi L, Shokouhi Shoormati R, Sabetkish N, Esmaeili B, Badalzadeh M, Alizadeh Z, Shamlou S, Movahedi M, Mahloujirad M, Razaghian A, Arshi S, Gharagozlou M, Kalantari A, Bemanian MH, Safari M, Heidarzadeh Arani M, Nabavi M, Parvaneh N, Sadeghi-Shabestari M, Behfar M, Behniafard N, Sherkat R, Ahmadian Heris J, Shariat M, Radmehr R, Houshmand M, Kazemnejad A, Molitor A, Carapito R, Bahram S, Pourpak Z, Moin M
Pediatr Allergy Immunol 2023 Jul;34(7):e13990. doi: 10.1111/pai.13990. PMID: 37492921

Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III.

Kahraman AB, Yaz I, Gocmen R, Aytac S, Metin A, Kilic SS, Tezcan I, Cagdas D
J Clin Immunol 2023 Aug;43(6):1250-1258. Epub 2023 Apr 4 doi: 10.1007/s10875-023-01479-7. PMID: 37014583

Biological functions of fucose in mammals.

Schneider M, Al-Shareffi E, Haltiwanger RS
Glycobiology 2017 Jul 1;27(7):601-618. doi: 10.1093/glycob/cwx034. PMID: 28430973 Free 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

Lessons from rare maladies: leukocyte adhesion deficiency syndromes.

Harris ES, Weyrich AS, Zimmerman GA
Curr Opin Hematol 2013 Jan;20(1):16-25. doi: 10.1097/MOH.0b013e32835a0091. PMID: 23207660 Free PMC Article

See all (135)

Therapy

Clinical and functional spectrum of RAC2-related immunodeficiency.

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: 34310689 Free PMC Article

Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III.

Bakhtiar S, Salzmann-Manrique E, Blok HJ, Eikema DJ, Hazelaar S, Ayas M, Toren A, Goldstein G, Moshous D, Locatelli F, Merli P, Michel G, Öztürk G, Schulz A, Heilmann C, Ifversen M, Wynn RF, Aleinikova O, Bertrand Y, Tbakhi A, Veys P, Karakukcu M, Kupesiz A, Ghavamzadeh A, Handgretinger R, Unal E, Perez-Martinez A, Gokce M, Porta F, Aksu T, Karasu G, Badell I, Ljungman P, Skorobogatova E, Yesilipek A, Zuckerman T, Bredius RRG, Stepensky P, Shadur B, Slatter M, Gennery AR, Albert MH, Bader P, Lankester A
Blood Adv 2021 Jan 12;5(1):262-273. doi: 10.1182/bloodadvances.2020002185. PMID: 33570653 Free PMC Article

Leukocyte adhesion deficiency II: therapy and genetic defect.

Wild MK, Lühn K, Marquardt T, Vestweber D
Cells Tissues Organs 2002;172(3):161-73. doi: 10.1159/000066968. PMID: 12476046

Leukocyte adhesion deficiency II-from A to almost Z.

Etzioni A, Tonetti M
Immunol Rev 2000 Dec;178:138-47. doi: 10.1034/j.1600-065x.2000.17805.x. PMID: 11213799

See all (66)

Prognosis

Biological functions of fucose in mammals.

Schneider M, Al-Shareffi E, Haltiwanger RS
Glycobiology 2017 Jul 1;27(7):601-618. doi: 10.1093/glycob/cwx034. PMID: 28430973 Free PMC Article

Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation.

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: 21178276 Free PMC Article

Leukocyte adhesion molecules deficiency: its structural basis, pathophysiology and implications for modulating the inflammatory response.

Arnaout MA
Immunol Rev 1990 Apr;114:145-80. doi: 10.1111/j.1600-065x.1990.tb00564.x. PMID: 1973407

See all (60)