X-linked inhibitor of apoptosis protein deficiency complicated with Crohn's disease-like enterocolitis and Takayasu arteritis A case report

X-linked inhibitor of apoptosis protein deficiency complicated with Crohn's disease-like enterocolitis and Takayasu arteritis : A case report

Copyright © 2020 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 217(2020) vom: 05. Aug., Seite 108495
1. Verfasser: Takeuchi, Ichiro (VerfasserIn)
Weitere Verfasser: Kawai, Toshinao, Nambu, Meika, Migita, Ohsuke, Yoshimura, Satoshi, Nishimura, Kenichi, Yoshioka, Takako, Ogura, Masao, Kyodo, Reiko, Shimizu, Hirotaka, Ito, Shuichi, Kato, Motohiro, Onodera, Masafumi, Hata, Kenichiro, Matsubara, Yoichi, Arai, Katsuhiro
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2020
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't Monogenic inflammatory bowel disease Takayasu arteritis Whole-exome sequencing X-linked inhibitor of apoptosis protein deficiency X-linked lymphoproliferative disorder type 2 X-Linked Inhibitor of Apoptosis Protein XIAP protein, human
Beschreibung
Zusammenfassung:Copyright © 2020 Elsevier Inc. All rights reserved.
X-linked inhibitor of apoptosis protein (XIAP) deficiency results in monogenic inflammatory bowel disease. To date, no vasculitis associated with XIAP deficiency has been reported. A 10-year-old boy was diagnosed with Crohn's disease and he responded poorly to conventional treatment for Crohn's disease. He was dependent on corticosteroids and parenteral nutrition. To manage severe colitis, he underwent ileostomy followed by ileocolectomy for an ileo-sigmoid fistula. At the age of 15 years, he developed IgA vasculitis and at the age of 17 years, he developed refractory Takayasu arteritis (TAK), which was resistant to corticosteroid and immunosuppressive therapy. Whole-exome sequencing revealed a novel mutation of the splice acceptor site in XIAP (c.1057-1G > A) at the age of 19 years. Allogeneic hematopoietic stem cell transplantation was successful with subsequent withdrawal of intensive immunosuppressive therapy and clinical remission of both enterocolitis and TAK. This case suggests that patients with XIAP deficiency could develop intractable inflammatory disease involving the intestinal tract and blood vessels
Beschreibung:Date Completed 01.02.2021
Date Revised 01.02.2021
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2020.108495