Journal
PEDIATRIC BLOOD & CANCER
Volume 52, Issue 4, Pages 527-529Publisher
WILEY-LISS
DOI: 10.1002/pbc.21851
Keywords
haemophagocytic lymphohistiocytosis (HLH); perforin gene mutations; X-CGD
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A patient with previously unrecognized X-linked chronic granulomatous disease (X-CGD) died of multi-organ failure, secondary to ongoing infection and hemophagocytic lymphohistiocytosis (HLH). Post mortem histological investigations were compatible With X-CGD, and a CYBB gene Mutation was confirmed. No homozygous Mutations in the genes encoding perforin (PRF1), MUNC 13-4 or syntaxin-11 (STX11) were found; however, there was a heterozygous alteration c.1471G>A in the PRF1 gene causing a p.Asp491Asn substitution. Although this substitution has not been reported to cause primary or secondary HLH, We Speculate that it may have made the patient more susceptible for HLH under the circumstances. of ongoing infection associated with X-CGD. Pediatr Blood Cancer 2009;52:527-529. (c) 2008 Wiley-Liss, Inc.
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