WHIM syndrome
ORPHA:51636· ICD-10 D81.8
Definition
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).
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Adolescent, Adult, Childhood