Abstract

Background

A small subset of cases of inflammatory bowel disease (IBD) occurs as a result of single gene defects, and typically occurs in young or very young pediatric patients, referred to as “monogenic very-early onset IBD (VEO-IBD)”. The gene variants leading to monogenic VEO-IBD are often associated with primary immunodeficiency syndromes.

Case report

A six year-old girl presented to our gastroenterology clinic with LRBA deficiency with a heterozygous mutation at c.1399 A > G, p Met467Val, histopathologic chronic active colitis without granulomas and clinical chronic colitis. Her gastrointestinal symptoms began at age 5 with bloody diarrhea, abdominal pain and weight loss. Whole exome sequencing revealed a CARD11 heterozygous de novo mutation (c.220 + 1G > A). She was in clinical remission on only abatacept.

Discussion

We present a case of monogenic VEO-IBD associated with two heterozygous variants in LRBA1 and CARD11, both considered as key players in the newly proposed “immune TOR-opathies”.

中文翻译：

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LRBA1 和 CARD11 杂合变异的极早发性慢性活动性结肠炎，一例“免疫 TOR 病”

摘要

背景

一小部分炎症性肠病 (IBD) 的发生是由于单基因缺陷，通常发生在年轻或非常年幼的儿科患者中，称为“单基因极早发性 IBD (VEO-IBD)”。导致单基因 VEO-IBD 的基因变异通常与原发性免疫缺陷综合征有关。

案例报告

一名 6 岁的女孩因 LRBA 缺陷和 c.1399 A > G 的杂合突变，p Met467Val，无肉芽肿的组织病理学慢性活动性结肠炎和临床慢性结肠炎就诊于我们的胃肠病诊所。她的胃肠道症状始于 5 岁，伴有血性腹泻、腹痛和体重减轻。全外显子组测序显示CARD11杂合从头突变 (c.220 + 1G > A)。她仅服用阿巴西普就处于临床缓解状态。

讨论

我们介绍了一个与LRBA1和CARD11中的两个杂合变体相关的单基因 VEO-IBD 病例，这两个变体被认为是新提出的“免疫 TOR 病”的关键参与者。