!Whim syndrome

  • Acronym: Warts, Hypogammaglobulinemia, Infections, Myelokathesis
  • Etiology
    • Gain of function mutation in the CXCR4 gene
      • Autosomal dominant
  • Clinical presentation
    • Early childhood: recurrent bacterial infections
    • Profuse and recalcitrant warts on the extremities and trunk around age 30
  • Labs
    • Neutropenia
    • Moderate hypogammaglobulinemia
    • Secondary to abnormal retention of mature neutrophils in the bone marrow (myelokathesis)
    • B lymphopenia
  • Abordagem
    • pedir imunoglobulinas (hipogamaglobulinemia nomeadamente da G)
  • Tratamento
    • podem precisar de vigilância na hematologia