Mendonça Leonardo Oliveira, Dos Reis Chuster Adriana Pitchon, Dorna Mayra Barros, Barros Samar Freschi, Alves Janaina Baptista, Gonçalves Victor Lucas, Yang Ariana Campos, Kalil Jorge, Toledo-Barros Myrthes Anna Maragna, Kokron Cristina Maria
Division of Clinical Immunology and Allergy, Hospital das Clinicas of the Faculdade de Medicina of the Universidade de São Paulo, Department of Internal Medicine, Universidade de São Paulo, Rua Dr. Enéas de Carvalho Aguiar, 255, 8th floor, São Paulo, 05403-000, Brazil.
Laboratory for Immunological Investigation (LIM-19), Heart Institute, University of São Paulo, São Paulo, Brazil.
Allergy Asthma Clin Immunol. 2022 Dec 12;18(1):105. doi: 10.1186/s13223-022-00740-9.
IPEX syndrome is an X-linked inborn error of immunity clinically characterized by the triad of: enteropathy, polyendocrinopathy and eczema. However many other clinical presentations lacking the triad above described have been reported what underpin the need of careful clinical suspicion, immunological evaluation and genetic sequencing.
Here we report a case of a Brazilian boy with severe eczema as the first and only presentation requiring cyclosporin therapy. Progressive and cumulative symptoms of arthritis and enteropathy lead to the suspicion of an inborn error of immunity. Peripheral FOXP3 expression was normal (CD127-/CD4+/CD25+/FOXP3+-396 cells-63%) and a pathogenic mutation in FOXP3 gene (c.1150G>A; p.Ala384Thr), confirmed the diagnosis of IPEX syndrome.
IPEX syndrome should be suspected in patients presenting with severe eczema associated or not with other autoimmune/hyper inflammatory diseases in life. Our study also reinforces that FOXP3 expression by flowcytometry seems not to be a good screening method, and genetic sequencing is mandatory even in those with high suspicion and normal peripheral FOXP3 expression.
免疫失调、多内分泌腺病、肠病、X连锁综合征（IPEX综合征）是一种X连锁的先天性免疫缺陷病，临床特征为三联征：肠病、多内分泌腺病和湿疹。然而，已经报道了许多缺乏上述三联征的其他临床表现，这突出了仔细的临床怀疑、免疫学评估和基因测序的必要性。
在此，我们报告一例巴西男孩病例，该男孩以严重湿疹为首发且唯一的临床表现，需要环孢素治疗。关节炎和肠病的进行性和累积性症状引发了对先天性免疫缺陷病的怀疑。外周血FOXP3表达正常（CD127-/CD4+/CD25+/FOXP3+-396细胞-63%），FOXP3基因的致病性突变（c.1150G>A；p.Ala384Thr）确诊为IPEX综合征。
对于患有严重湿疹且无论是否伴有其他自身免疫/高炎症性疾病的患者，均应怀疑IPEX综合征。我们的研究还强化了流式细胞术检测FOXP3表达似乎不是一种良好的筛查方法，即使对于高度怀疑且外周血FOXP3表达正常的患者，基因测序也是必需的。
