Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia

Kris Ann P. Schultz, Joseph P. Neglia, Angela R. Smith, Hans D. Ochs, Troy R. Torgerson, Ashish Kumar

Research output: Contribution to journalArticle

11 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)293-295
Number of pages3
JournalPediatric Blood and Cancer
Volume51
Issue number2
DOIs
StatePublished - Aug 1 2008

Keywords

  • Adenovirus
  • Hemophagocytic lymphohistiocytosis
  • Immunodeficiency
  • X-linked agammaglobulinemia

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