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WHIM syndrome

Disease 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).

ORPHA:51636

  • Synonym(s):
    • WILM
    • Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
    • Warts-infections-leukopenia-myelokatexis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or Not applicable 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: D81.8
  • OMIM: 193670
  • UMLS: C0472817
  • MeSH: C536697
  • GARD: 9297
  • MedDRA: -

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