Fang Youhong, Luo Youyou, Liu Yang, Chen Jie
Department of Gastroenterology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Department of Pathology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Front Genet. 2022 Jun 9;13:873635. doi: 10.3389/fgene.2022.873635. eCollection 2022.
Variants in the gene were recently reported as the cause of a primary immunodeficiency disease called X-linked moesin-associated immunodeficiency (X-MAID). Hitherto, only 10 patients were reported worldwide. Here, we report a boy who presented with recurrent high fever, oral ulcers, abdominal pain, and hematochezia for over 2 weeks. His serum inflammatory markers were elevated, and colonoscopy showed multiple colon ulcers and terminal ileum ulcers which resemble colitis caused by inflammatory bowel disease. A novel heterozygous variant c.934G>T(p.Glu312Ter) in the gene was identified using whole exome sequencing (WES) and trio analysis. Intestinal ulcers were almost healed after inducing therapy with steroids and maintenance treatment of anti-TNFα therapy. We summarized the genotype and phenotype of reported X-MAID patients and presented the patient's unique phenotype in this study. This study also expanded the spectrum of mutation-caused immunodeficiency.
该基因的变异最近被报道为一种名为X连锁肌动蛋白结合蛋白相关免疫缺陷（X-MAID）的原发性免疫缺陷疾病的病因。迄今为止，全球仅报道了10例患者。在此，我们报告一名男孩，他出现反复高热、口腔溃疡、腹痛和便血超过2周。他的血清炎症标志物升高，结肠镜检查显示多个结肠溃疡和回肠末端溃疡，类似于炎症性肠病引起的结肠炎。通过全外显子组测序（WES）和三联体分析，在该基因中鉴定出一种新的杂合变异c.934G>T（p.Glu312Ter）。在用类固醇诱导治疗和抗TNFα治疗维持治疗后，肠道溃疡几乎愈合。我们总结了已报道的X-MAID患者的基因型和表型，并在本研究中展示了该患者独特的表型。本研究还扩展了该基因突变导致的免疫缺陷谱。
