Case Report: A Novel Compound Heterozygous Mutation in IL-10RA in a Chinese Child With Very Early-Onset Inflammatory Bowel Disease.
Case Report: A Novel Compound Heterozygous Mutation in IL-10RA in a Chinese Child With Very Early-Onset Inflammatory Bowel Disease.
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病例报告：一名患有极早发性炎症性肠病的中国儿童 IL-10RA 中的新型复合杂合突变
DOI：
10.3389/fped.2021.678390
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发表时间：
2021
影响因子：
2.6
通讯作者：
Wang Y
中科院分区：
文献类型：
--
作者：
Dong F;Xiao F;Ge T;Li X;Xu W;Wu S;Zhang T;Wang Y
极早发型炎症性肠病（VEO-IBD）定义为在6岁以下儿童中诊断出的IBD。VEO-IBD通常与单基因病因学或原发性免疫缺陷相关。在这里，我们报告的情况下，7个月大的中国女孩诊断为VEO-IBD谁有一个变异的白细胞介素-10受体A（IL-10-RA）基因。患者表现为反复发热、腹痛、腹泻、肛周脓肿和口腔溃疡。全外显子组测序（WES）发现了一个新的复合杂合子突变c.395T>G（p.Leu132Arg）/ex.1del（p.？），IL-10 RA基因的突变。错义突变c.395T>G（p.Leu132Arg）遗传自母亲，ex.1del（p.？）是从她父亲那里继承来的这两种突变以前都没有报道过。患者的IL-10 RA功能有缺陷，如用重组IL-10刺激的外周血单核细胞（PBMC）中的信号转导子和转录激活子3（STAT 3）激活失败所证明的。患者接受了匹配的非亲缘外周血造血干细胞移植（HSCT），临床表现明显改善。总之，我们发现了一种新的复合杂合子突变，c.395T>G（p.Leu132Arg）/ex.1del（p.？），IL-10 RA在中国儿童中引起VEO-IBD，这进一步扩大了IL-10 RA的突变谱。
Very early-onset inflammatory bowel disease (VEO-IBD) is defined as IBD diagnosed in children younger than 6 years of age. VEO-IBD is often associated with a monogenic etiology or primary immune deficiency. Here, we report the case of a 7-month-old Chinese girl diagnosed with VEO-IBD who had a variant in the interleukin-10 receptor A (IL-10-RA) gene. The patient presented with recurrent fevers, abdominal pain, diarrhea, perianal abscesses, and oral ulcers. Whole-exome sequencing (WES) identified a novel compound heterozygote mutation, c.395T>G (p.Leu132Arg)/ex.1del (p.?), in the IL-10RA gene of the patient. The missense mutation c.395T>G (p.Leu132Arg) was inherited from her mother, and ex.1del (p.?) was inherited from her father. Neither mutation has been reported previously. The IL-10RA function of the patient was defective, as demonstrated by a failure of signal transducer and activator of transcription 3 (STAT3) activation in peripheral blood mononuclear cells (PBMCs) stimulated with recombinant IL-10. The patient underwent matched unrelated peripheral blood hematopoietic stem cell transplantation (HSCT), and the clinical manifestations were dramatically improved. In summary, we identified a novel compound heterozygote mutation, c.395T>G (p.Leu132Arg)/ex.1del (p.?), in IL-10RA that caused VEO-IBD in a Chinese child, which further expands the mutational spectrum of IL-10RA.
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DOI：
10.1038/ajg.2017.97
发表时间：
2017-07
期刊：
The American journal of gastroenterology
影响因子：
--
作者：
Benchimol EI;Bernstein CN;Bitton A;Carroll MW;Singh H;Otley AR;Vutcovici M;El-Matary W;Nguyen GC;Griffiths AM;Mack DR;Jacobson K;Mojaverian N;Tanyingoh D;Cui Y;Nugent ZJ;Coulombe J;Targownik LE;Jones JL;Leddin D;Murthy SK;Kaplan GG
通讯作者：
Kaplan GG
影响因子：
29.4
作者：
Uhlig HH;Schwerd T;Koletzko S;Shah N;Kammermeier J;Elkadri A;Ouahed J;Wilson DC;Travis SP;Turner D;Klein C;Snapper SB;Muise AM;COLORS in IBD Study Group and NEOPICS
通讯作者：
COLORS in IBD Study Group and NEOPICS
影响因子：
3.5
作者：
Shim, Jung Ok;Seo, Jeong Kee
通讯作者：
Seo, Jeong Kee
影响因子：
9.8
作者：
Begue, Bernadette;Verdier, Julien;Ruemmele, Frank M.
通讯作者：
Ruemmele, Frank M.
影响因子：
29.4
作者：
Kotlarz, Daniel;Beier, Rita;Klein, Christoph
通讯作者：
Klein, Christoph