Orphanet: Déficit immunitaire primaire autosomique récessif avec un défaut de cytotoxicité spontanée des cellules Natural Killer

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Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity

Disease definition

A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Ebstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.


Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
    • CD16 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: D84.8
  • OMIM: 615707
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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