{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13"],"submitter":["Fang Y"],"funding":["Natural Science Foundation of Zhejiang Province"],"pubmed_abstract":["Variants in the <i>MSN</i> 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 <i>MSN</i> 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 <i>MSN</i> mutation-caused immunodeficiency."],"journal":["Frontiers in genetics"],"pagination":["873635"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9224403"],"repository":["biostudies-literature"],"pubmed_title":["A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report."],"pmcid":["PMC9224403"],"pubmed_authors":["Fang Y","Liu Y","Chen J","Luo Y"],"additional_accession":[]},"is_claimable":false,"name":"A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report.","description":"Variants in the <i>MSN</i> 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 <i>MSN</i> 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 <i>MSN</i> mutation-caused immunodeficiency.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2026-05-27T21:28:12.381Z","creation":"2022-07-09T18:09:11.353Z"},"accession":"S-EPMC9224403","cross_references":{"pubmed":["35754805"],"doi":["10.3389/fgene.2022.873635"]}}