Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia

Pediatr Blood Cancer. 2008 Aug;51(2):293-5. doi: 10.1002/pbc.21573.

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is often familial and is associated with high mortality. Primary (familial) HLH is known to occur in children with mutations in perforin, Munc13-4, or syntaxin 11. We describe a case series of two brothers who developed HLH in the setting of X-linked agammaglobulinemia (XLA, Bruton's disease) and adenovirus infection. Further studies revealed absence of Bruton's tyrosine kinase (BTK) protein expression and a novel BTK mutation.

Publication types

  • Case Reports

MeSH terms

  • Agammaglobulinaemia Tyrosine Kinase
  • Agammaglobulinemia / genetics*
  • Child, Preschool
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Infant
  • Lymphohistiocytosis, Hemophagocytic / genetics*
  • Male
  • Mutation
  • Protein-Tyrosine Kinases / genetics
  • Siblings

Substances

  • Protein-Tyrosine Kinases
  • Agammaglobulinaemia Tyrosine Kinase
  • BTK protein, human