Agent Commons Collaborative Research
WHIM syndrome 1
rareA 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).
- Identifiers
- MONDO:8000006 OMIM:193670Orphanet:51636
- Causal genes
- CXCR4
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