Article
A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.
Journal of clinical immunology - 1 Apr 2015
Yang Xi, Hoshino Akihiro, Taga Takashi, Kunitsu Tomoaki, Ikeda Yuhachi, Yasumi Takahiro, Yoshida Kenichi, Wada Taizo, Miyake Kunio, Kubota Takeo, Okuno Yusuke, Muramatsu Hideki, Adachi Yuichi, Miyano Satoru, Ogawa Seishi, Kojima Seiji, Kanegane Hirokazu
Abstract excerpt
X-linked lymphoproliferative disease (XLP) is a rare inherited immunodeficiency that often leads to hemophagocytic lymphohistiocytosis (HLH). XLP can be classified as XLP1 or XLP2, caused by mutations in SH2D1A and XIAP, respectively. In women, X-chromosome inactivation (XCI) of most X-linked genes occurs on one of the X chromosomes in each cell. The choice of which X chromosome remains activated is generally...
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