Abstract |
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.
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Authors | Joris M van Montfrans, Eva Rudd, Lisette van de Corput, Jan-Inge Henter, Peter Nikkels, Nico Wulffraat, Jaap J Boelens |
Journal | Pediatric blood & cancer
(Pediatr Blood Cancer)
Vol. 52
Issue 4
Pg. 527-9
(Apr 2009)
ISSN: 1545-5017 [Electronic] United States |
PMID | 19058215
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright 2008 Wiley-Liss, Inc. |
Chemical References |
- Membrane Glycoproteins
- PRF1 protein, human
- Pore Forming Cytotoxic Proteins
- Perforin
- CYBB protein, human
- NADPH Oxidase 2
- NADPH Oxidases
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Topics |
- Child, Preschool
- Fatal Outcome
- Female
- Granulomatous Disease, Chronic
(complications, genetics, physiopathology)
- Humans
- Lymphohistiocytosis, Hemophagocytic
(complications, genetics, physiopathology)
- Male
- Membrane Glycoproteins
(genetics)
- NADPH Oxidase 2
- NADPH Oxidases
(genetics)
- Pedigree
- Perforin
- Polymorphism, Genetic
- Pore Forming Cytotoxic Proteins
(genetics)
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