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WHIM syndrome

Orpha number ORPHA51636
Synonym(s) Warts-hypogammaglobulinemia-infections-myelokathexis
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Childhood
ICD-10
  • D81.8
OMIM
UMLS
  • C0472817
MeSH
  • C536697
MedDRA -
SNOMED CT
  • 234571003

Summary

WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency primarily characterized by neutropenia, myelokathexis, and hypogammaglobulinemia associated with a susceptibility to human papillomavirus induced lesions (HPV, cutaneous warts, genital dysplasia and invasive mucosal carcinoma) and increased risk for bacterial infections


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Detailed information

Emergency guidelines
  • FR (2010,pdf)
  • ES (2009,pdf)
  • IT (2012,pdf)
Review article
  • EN (2011)
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