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Fatal hemophagocytic lymphohistiocytosis in X‐linked chronic granulomatous disease associated with a perforin gene variant
Author(s) -
van Montfrans Joris M.,
Rudd Eva,
van de Corput Lisette,
Henter JanInge,
Nikkels Peter,
Wulffraat Nico,
Boelens Jaap J.
Publication year - 2009
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21851
Subject(s) - perforin , chronic granulomatous disease , hemophagocytic lymphohistiocytosis , medicine , immunology , mutation , gene , disease , genetics , biology , pathology , antigen , cd8
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. © 2008 Wiley‐Liss, Inc.