Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity

Orpha code: 437552OMIM code: 615707

Definition

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.

Disease data
Classification

Disease

Synonyms
Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
Autosomalny recesywny pierwotny Niedobór odporności ze spontanicznym defektem cytotoksyczności komórek NK
CD16 deficiency
ORPHA code
437552
OMIM code
615707
ICD10 code
D84.8
ICD11 code
-

No additional description.

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