背景：免疫失调，多内分泌病,肠病,X连锁（IPEX）综合征是一种罕见的单基因自身免疫性疾病，这是由叉头框蛋白3基因的突变引起的，可以影响各种系统。IPEX的典型临床表现是肠病，1型糖尿病,和皮肤病。然而,一些不典型的表型在临床上容易被误诊。
方法：一名9岁7个月大的反复喘息患者，便血,六个月大的湿疹性皮炎，但没有任何自身免疫性内分泌病的表现。患者接受糖皮质激素治疗超过6年,他出现了支气管扩张.
方法：全外显子组测序显示半合子致病突变c.1010G>A，p.(Arg337Gln)在叉头盒蛋白3基因(NM_014009.3)中。
方法：确诊后口服霉酚酸酯联合吸入布地奈德福莫特罗治疗6个月。
结果：患者的呼吸道症状似乎得到控制，但湿疹性皮炎进展，导致病人放弃治疗。
结论：IPEX的早期诊断和治疗至关重要。肺损伤可能是非典型IPEX后期的主要问题，霉酚酸酯似乎可以控制呼吸道症状，但是会引起明显的皮肤副作用。
BACKGROUND: 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.
METHODS: 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.
METHODS: Whole exome sequencing revealed a hemizygous pathogenic mutation c.1010G>A, p. (Arg337Gln) in Forkhead box protein 3 gene (NM_014009.3).
METHODS: The patient was treated with oral mycophenolate mofetil combined with inhaled budesonide formoterol for six months after diagnosis.
RESULTS: The respiratory symptoms of the patient seemed to be controlled but eczematous dermatitis progressed, which led the patient to give up the treatment.
CONCLUSIONS: 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.
