Синдром WHIM
ORPHA:51636· ICD-10 D81.8· WHIM syndrome
Визначення(English summary)
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).
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant, Autosomal recessive, Not applicable
- Вік початку
- Adolescent, Adult, Childhood