Al Maawali Ali, Derfalvi Beata, Van Limbergen Johan, Issekutz Andrew, Issekutz Thomas, Ghandourah Hasan, Rashid Mohsin
Department of Paediatrics, Faculty of Medicine, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, Canada.
Division of Immunology, Department of Paediatrics, Faculty of Medicine, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, Canada.
Case Reports Immunol. 2020 Sep 9;2020:9860863. doi: 10.1155/2020/9860863. eCollection 2020.
IPEX (immune dysregulation-polyendocrinopathy-enteropathy-X-linked) syndrome is a rare, potentially fatal multisystem disorder caused by mutations in the gene. This can lead to quantitative or functional deficiency of regulatory T cells (Treg), thereby affecting their immune-suppressive actions which can in turn cause autoimmune and inflammatory disorders. We describe an infant with IPEX syndrome with unremarkable maternal family history whose only presentations were severe diarrhea and malnutrition. The patient had a normal percentage of Treg cells and FOXP3 protein expression, but further testing revealed a hemizygous missense mutation in the gene. IPEX syndrome should be considered in young children even if severe intractable diarrhea is the only symptom with no other autoimmune manifestations. Sequencing of the gene should always be considered for accurate diagnosis to look for mutations even in the face of normal FOXP3 protein expression in the Treg cell.
IPEX（免疫失调-多内分泌病-肠病-X连锁）综合征是一种由该基因中的突变引起的罕见的、可能致命的多系统疾病。这会导致调节性T细胞（Treg）数量或功能缺陷，从而影响其免疫抑制作用，进而引发自身免疫性和炎症性疾病。我们描述了一名患有IPEX综合征的婴儿，其母系家族史无异常，唯一的表现是严重腹泻和营养不良。该患者Treg细胞百分比和FOXP3蛋白表达正常，但进一步检测发现该基因存在半合子错义突变。即使严重的顽固性腹泻是唯一症状且无其他自身免疫表现，幼儿也应考虑IPEX综合征。即使Treg细胞中FOXP3蛋白表达正常，为准确诊断寻找突变，也应始终考虑对该基因进行测序。
