Zhang Ying, Liu Hanmin, Ai Tao, Xia Wanmin, Chen Tingting, Zhang Lei, Luo Xiulan, Duan Yaping
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.
Chengdu Women's and Children's Central Hospital.
Medicine (Baltimore). 2021 Mar 26;100(12):e25174. doi: 10.1097/MD.0000000000025174.
Immune 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.
A 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.
Whole exome sequencing revealed a hemizygous pathogenic mutation c.1010G>A, p. (Arg337Gln) in Forkhead box protein 3 gene (NM_014009.3).
The patient was treated with oral mycophenolate mofetil combined with inhaled budesonide formoterol for six months after diagnosis.
The respiratory symptoms of the patient seemed to be controlled but eczematous dermatitis progressed, which led the patient to give up the treatment.
Early 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.
免疫失调、多内分泌腺病、肠病和X连锁（IPEX）综合征是一种罕见的单基因自身免疫性疾病，由叉头框蛋白3基因的突变引起，可影响多个系统。IPEX的典型临床表现为肠病、1型糖尿病和皮肤病。然而，一些非典型表型在临床上很容易被误诊。
一名9岁7个月大的患者在6个月大时出现反复喘息、便血和湿疹性皮炎，但无自身免疫性内分泌病的任何表现。该患者接受糖皮质激素治疗超过6年，出现了支气管扩张。
全外显子测序显示叉头框蛋白3基因（NM_014009.3）存在半合子致病性突变c.1010G>A，p.（Arg337Gln）。
诊断后，该患者接受口服吗替麦考酚酯联合吸入布地奈德福莫特罗治疗6个月。
患者的呼吸道症状似乎得到了控制，但湿疹性皮炎有所进展，导致患者放弃治疗。
IPEX的早期诊断和治疗至关重要。肺损伤可能是非典型IPEX后期的一个主要问题，吗替麦考酚酯似乎可以控制呼吸道症状，但可能会引起明显的皮肤副作用。
