• Ying Zhang, Hanmin Liu, Tao Ai, Wanmin Xia, Tingting Chen, Lei Zhang, Xiulan Luo, and Yaping Duan.
• Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan.
• Medicine (Baltimore). 2021 Mar 26; 100 (12): e25174e25174.

IntroductionImmune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome is a rare monogenic autoimmune disease, which is caused by mutations in the forkhead box protein 3 gene, can affect various systems. The typical clinical manifestations of IPEX are enteropathy, type 1 diabetes mellitus, and skin diseases. However, some atypical phenotypes can easily be misdiagnosed clinically.Patient ConcernsA 9-year-and-7-month old patient suffered from recurrent wheezing, hematochezia, and eczematous dermatitis at the age of six months, but did not have any manifestations of autoimmune endocrinopathy. The patient was treated with glucocorticoids for more than six years, and he developed bronchiectasis.DiagnosisWhole exome sequencing revealed a hemizygous pathogenic mutation c.1010G>A, p. (Arg337Gln) in Forkhead box protein 3 gene (NM_014009.3).InterventionsThe patient was treated with oral mycophenolate mofetil combined with inhaled budesonide formoterol for six months after diagnosis.OutcomesThe respiratory symptoms of the patient seemed to be controlled but eczematous dermatitis progressed, which led the patient to give up the treatment.ConclusionEarly diagnosis and treatment of IPEX are crucial. Lung injury may be a major problem in the later stages of atypical IPEX, and mycophenolate mofetil seems to control the respiratory symptoms, but could induce significant skin side effects.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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