IPEX综合征背景下的胃腺癌。

IF 0.7 Q4 IMMUNOLOGY

Case Reports in Immunology Pub Date : 2021-06-25 eCollection Date: 2021-01-01 DOI:10.1155/2021/9967198

David Steffin, Saleh Bhar, Douglas S Fishman, Nicholas L Rider, Bindi Naik-Mathuria, Caridad Martinez, Rajkumar Venkatramani

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引用次数: 2

摘要

免疫失调、多内分泌失调、肠病、x连锁(IPEX)综合征是一种罕见的x连锁疾病，由FOXP3基因的功能突变丧失引起。它表现在婴儿期早期，临床症状包括自身免疫性肠病、1型糖尿病和湿疹。虽然FOXP3的异常表达与几种类型的癌症有关，但对于携带FOXP3特征性突变的IPEX患者的癌症风险知之甚少。在这里，我们提出一个独特的病例原发性印戒胃腺癌的儿童患者与IPEX综合征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Gastric Adenocarcinoma in the Setting of IPEX Syndrome.

查看原文本刊更多论文

Gastric Adenocarcinoma in the Setting of IPEX Syndrome.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare X-linked disorder caused by a loss of function mutation in the FOXP3 gene. It manifests early in infancy with clinical symptoms including autoimmune enteropathy, type 1 diabetes mellitus, and eczema. While aberrant FOXP3 expression has been associated with several types of cancer, little is known regarding the risk of cancer in patients with IPEX harboring the characteristic FOXP3 mutation. Here, we present a unique case of a primary signet ring gastric adenocarcinoma in a pediatric patient with IPEX syndrome.

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来源期刊

Case Reports in Immunology IMMUNOLOGY-

CiteScore

1.90

自引率

0.00%

发文量

审稿时长

15 weeks

期刊介绍： Case Reports in Immunology is a peer-reviewed, Open Access journal that publishes case reports and case series related to allergies, immunodeficiencies, autoimmune diseases, immune disorders, cancer immunology and transplantation immunology.