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Article

Clinical and genetic characteristics of XIAP deficiency in Japan.

Journal of clinical immunology - 1 Jun 2012

Yang Xi, Kanegane Hirokazu, Nishida Naonori, Imamura Toshihiko, Hamamoto Kazuko, Miyashita Ritsuko, Imai Kohsuke, Nonoyama Shigeaki, Sanayama Kazunori, Yamaide Akiko, Kato Fumiyo, Nagai Kozo, Ishii Eiichi, van Zelm Menno C, Latour Sylvain, Zhao Xiao-Dong, Miyawaki Toshio

Abstract excerpt

Deficiency of X-linked inhibitor of apoptosis (XIAP) caused by XIAP/BIRC4 gene mutations is an inherited immune defect recognized as X-linked lymphoproliferative syndrome type 2. This disease is mainly observed in patients with hemophagocytic lymphohistiocytosis (HLH) often associated with Epstein-Barr virus infection. We described nine Japanese patients from six unrelated families with XIAP deficiency and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22228567
DOI: 10.1007/s10875-011-9638-z

Genes

XIAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Clinical and genetic characteristics of XIAP deficiency in Japan.PMID 22228567Read ↗

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