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 language | English (US) |
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Pages (from-to) | 293-295 |
Number of pages | 3 |
Journal | Pediatric Blood and Cancer |
Volume | 51 |
Issue number | 2 |
DOIs | |
State | Published - Aug 1 2008 |
Keywords
- Adenovirus
- Hemophagocytic lymphohistiocytosis
- Immunodeficiency
- X-linked agammaglobulinemia