WHIM syndrome


Engelsk navn: WHIM syndrome
Engelske synonym: WILM,Warts-hypogammaglobulinemia-infections-myelokathexis syndrome,Warts-infections-leukopenia-myelokatexis syndrome


Definisjon

WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

Fra Orphanet

ORPHA: 51636
Klassifiseringsnivå: Disorder
ICD-10: D81.8

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