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


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 1 2008


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

Fingerprint Dive into the research topics of 'Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia'. Together they form a unique fingerprint.

  • Cite this