He Mai, Wong Amanda, Sutton Kimberly, Gondim Mercia Jeanne Bezerra, Samson Charles
Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA.
Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Fetal Pediatr Pathol. 2023 Apr;42(2):297-306. doi: 10.1080/15513815.2022.2088912. Epub 2022 Jun 24.
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.
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 heterozygous de novo mutation (c.220 + 1G > A). She was in clinical remission on only abatacept.
We present a case of monogenic VEO-IBD associated with two heterozygous variants in and both considered as key players in the newly proposed "immune TOR-opathies".
一小部分炎症性肠病（IBD）病例是由单基因缺陷引起的，通常发生在年轻或非常年幼的儿科患者中，被称为“单基因极早发型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相关。
一名6岁女孩因LRBA缺陷就诊于我们的胃肠病诊所，其存在c.1399 A＞G、p Met467Val的杂合突变，组织病理学表现为无肉芽肿的慢性活动性结肠炎及临床慢性结肠炎。她的胃肠道症状始于5岁，表现为血性腹泻、腹痛和体重减轻。全外显子测序显示一个杂合新发突变（c.220 + 1G＞A）。仅使用阿巴西普治疗时她处于临床缓解状态。
我们报告了一例单基因VEO - IBD病例，其与 和 中的两个杂合变异相关，这两个变异均被认为是新提出的“免疫TOR病”中的关键因素。
