✦ LIBER ✦

Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations

✍ Scribed by Ikuyo Ueda; Yumi Kurokawa; Kenichi Koike; Shuichi Ito; Akifumi Sakata; Tsutomu Matsumora; Takashi Fukushima; Akira Morimoto; Eiichi Ishii; Shinsaku Imashuku

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 192 KB
Volume: 82
Category: Article
ISSN: 0361-8609
DOI: 10.1002/ajh.20878

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✦ Synopsis

Abstract

Since the discovery of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) type 2, heterogeneous features in FHL2 patients have been identified in a report of Feldmann et al. as the beginning. This study was conducted to determine the impact of characteristic gene mutations on late‐onset (age ≥ 7 years) hemophagocytic lymphohistiocytosis episodes. We analyzed perforin gene mutations in three late‐onset cases from our registry in Japan and an additional 10 cases from the literature. Of the 13 cases with onset ages of a median of 10 (range 7–49) years, nine had homozygous and four had compound heterozygous missense mutations of the perforin gene. None had homozygous nonsense mutations. Our data suggest that nonsense perforin gene mutations yield early onset and missense mutations late onset in FHL2 cases. Am. J. Hematol., 2007. © 2007 Wiley‐Liss, Inc.

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