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 Al
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- 作者：Xi Yang (1)
Akihiro Hoshino (1)
Takashi Taga (2)
Tomoaki Kunitsu (2)
Yuhachi Ikeda (2)
Takahiro Yasumi (3)
Kenichi Yoshida (4)
Taizo Wada (5)
Kunio Miyake (6)
Takeo Kubota (6)
Yusuke Okuno (7)
Hideki Muramatsu (7)
Yuichi Adachi (1)
Satoru Miyano (8) (9)
Seishi Ogawa (4)
Seiji Kojima (7)
Hirokazu Kanegane (1) (10)
1. Department of Pediatrics ; Graduate School of Medicine and Pharmaceutical Sciences ; University of Toyama ; Toyama ; Japan
2. Department of Pediatrics ; Shiga University of Medical Science ; Otsu ; Japan
3. Department of Pediatrics ; Graduate School of Medicine ; Kyoto University ; Kyoto ; Japan
4. Department of Pathology and Tumor Biology ; Graduate School of Medicine ; Kyoto University ; Kyoto ; Japan
5. Department of Pediatrics ; School of Medicine ; Institute of Medical ; Pharmaceutical and Health Sciences ; Kanazawa University ; Kanazawa ; Japan
6. Department of Epigenetic Medicine ; Interdisciplinary Graduate School of Medicine and Engineering ; University of Yamanashi ; Yamanashi ; Japan
7. Department of Pediatrics ; Nagoya University Graduate School of Medicine ; Nagoya ; Japan
8. Laboratory of DNA Information Analysis ; Human Genome Center ; Institute of Medical Science ; The University of Tokyo ; Tokyo ; Japan
9. Laboratory of Sequence Analysis ; Human Genome Center ; Institute of Medical Science ; The University of Tokyo ; Tokyo ; Japan
10. Department of Pediatrics and Developmental Biology ; Graduate School of Medical and Dental Sciences ; Tokyo Medical and Dental University ; 1-5-45 Yushima ; Bunkyo-ku ; Tokyo ; 113-8519 ; Japan - 关键词：Hemophagocytic lymphohistiocytosis ; X ; chromosome inactivation ; X ; linked inhibitor of apoptosis ; X ; linked lymphoproliferative syndrome
- 刊名：Journal of Clinical Immunology
- 出版年：2015
- 出版时间：April 2015
- 年：2015
- 卷：35
- 期：3
- 页码：244-248
- 全文大小：413 KB
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- 刊物主题：Biomedicine
Immunology
Infectious Diseases
Internal Medicine
Medical Microbiology - 出版者：Springer Netherlands
- ISSN：1573-2592
文摘
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 random, although genetic differences and selective advantage may cause one of the X chromosomes to be preferentially inactivated. Here we describe three patients with pancytopenia, including one female patient, in a Japanese family with a novel XIAP mutation. All three patients exhibited deficient XIAP protein expression, impaired NOD2/XIAP signaling, and augmented activation-induced cell death. In the female patient, the paternally derived X chromosome was non-randomly and exclusively inactivated in her peripheral blood and hair root cells. In contrast to asymptomatic females, this patient exhibied non-random XCI skewed towards the wild-type XIAP allele. This is the first report of a female patient with incomplete HLH resulting from a heterozygous XIAP mutation in association with non-random XCI.