Leukocyte Adhesion Deficiency, Type III

Alternative Names

  • LAD3
  • Leukocyte Adhesion Deficiency 3
  • Leukocyte Adhesion Deficiency 1 Variant
  • LAD1V
  • Integrin Activation Deficiency Disease
  • IADD
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

OMIM Number

612840

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11q13.1

Description

Leukocyte adhesion deficiency-3 (LAD3), also known as LAD1 variant (LAD1V), is an autosomal recessive disorder characterized by LAD1-like immune deficiency and Glanzmann thrombasthenia-like bleeding problems. LAD3 results from mutations in FERMT3, or KINDLIN3, which encodes an intracellular protein that interacts with beta-integrins in hematopoietic cells. In LAD3, the adhesive functions of integrins on both leukocytes and platelets are disrupted, most likely due to defects in activation-dependent alterations of surface integrins that enable high-avidity binding to ligands on target cells, a process termed 'inside-out signaling'. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
612840.1.1United Arab EmiratesMaleNo Abnormal bleeding; Recurrent infections;...NM_031471.6:c.48G>AHomozygousAutosomal, RecessiveMalinin et al. 2009 'Subject 1' in the p...
612840.1.2United Arab EmiratesFemaleNo Abnormal bleeding; Recurrent infections;...NM_031471.6:c.48G>AHomozygousAutosomal, RecessiveMalinin et al. 2009 'Subject 2' in the p...
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