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

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12 Scopus citations


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
Issue number2
StatePublished - Aug 2008


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


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