Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity


Engelsk navn: Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Engelske synonym: Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity,CD16 deficiency


Definisjon

A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Epstein-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.

Fra Orphanet

ORPHA: 437552
Klassifiseringsnivå: Disorder
ICD-10: D84.8

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Mer informasjon

Senter for sjeldne diagnoser ved OUS har kunnskap om diagnosen.
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