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) |
|---|---|
| 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
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
Schultz, K. A. P., Neglia, J. P., Smith, A. R., Ochs, H. D., Torgerson, T. R., & Kumar, A. (2008). Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia. Pediatric Blood and Cancer, 51(2), 293-295. https://doi.org/10.1002/pbc.21573