DISEASE: NK cell defects


Entry
H00090                      Disease                                
Name
NK cell defects
  Supergrp
Disorders of innate immunity [DS:H02525]
Primary immunodeficiency disease [DS:H01725]
Description
A patient with a mutation in CD16, also known as FcgRIIIa, has been identified. He was a 3-year-old boy, and suffered from recurrent viral respiratory tract infections since birth. CD16 is part of the FcgRIII found on NK cells as well as macrophages and some T cells. The receptor allows NK cells to phagocytose organisms or cells coated with IgG in the absence of MHC (antibody-dependent cellular cytotoxicity). The mutation disrupts NK cell function and is associated with NK cytopenia. The patient also had severe clinical problems after BCG vaccination.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00090  NK cell defects
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A00  Primary immunodeficiencies due to disorders of innate immunity
    H00090  NK cell defects
Related
pathway
hsa04650  Natural killer cell mediated cytotoxicity
Gene
FCGR3A [HSA:2214] [KO:K06463]
Other DBs
ICD-11: 4A00.3
Reference
PMID:17162365
  Authors
Kumar A, Teuber SS, Gershwin ME.
  Title
Current perspectives on primary immunodeficiency diseases.
  Journal
Clin Dev Immunol 13:223-59 (2006)
DOI:10.1080/17402520600800705
Reference
PMID:8874200
  Authors
de Vries E, Koene HR, Vossen JM, Gratama JW, von dem Borne AE, Waaijer JL, Haraldsson A, de Haas M, van Tol MJ
  Title
Identification of an unusual Fc gamma receptor IIIa (CD16) on natural killer cells in a patient with recurrent infections.
  Journal
Blood 88:3022-7 (1996)

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  All links  
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (4)   

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