Document Detail

Clinical and Genetic Characteristics of XIAP Deficiency in Japan.
MedLine Citation:
PMID:  22228567     Owner:  NLM     Status:  Publisher    
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 studied XIAP protein expression, XIAP gene analysis, invariant natural killer T (iNKT) cell counts, and the cytotoxic activity of CD8(+) alloantigen-specific cytotoxic T lymphocytes. Of the nine patients, eight patients presented with symptoms in infancy or early childhood. Five patients presented with recurrent HLH, one of whom had severe HLH and died after cord blood transplantation. One patient presented with colitis, as did another patient's maternal uncle, who died of colitis at 4 years of age prior to diagnosis with XIAP deficiency. Interestingly, a 17-year-old patient was asymptomatic, while his younger brother suffered from recurrent HLH and EBV infection. Seven out of eight patients showed decreased XIAP protein expression. iNKT cells from patients with XIAP deficiency were significantly decreased as compared with age-matched healthy controls. These results in our Japanese cohort are compatible with previous studies, confirming the clinical characteristics of XIAP deficiency.
Xi Yang; Hirokazu Kanegane; Naonori Nishida; Toshihiko Imamura; Kazuko Hamamoto; Ritsuko Miyashita; Kohsuke Imai; Shigeaki Nonoyama; Kazunori Sanayama; Akiko Yamaide; Fumiyo Kato; Kozo Nagai; Eiichi Ishii; Menno C van Zelm; Sylvain Latour; Xiao-Dong Zhao; Toshio Miyawaki
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-1-8
Journal Detail:
Title:  Journal of clinical immunology     Volume:  -     ISSN:  1573-2592     ISO Abbreviation:  -     Publication Date:  2012 Jan 
Date Detail:
Created Date:  2012-1-9     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8102137     Medline TA:  J Clin Immunol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Pediatrics, Graduate School of Medicine, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan.
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