Abstract：
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) is characterized by failure to thrive, severe chronic diarrhea, neonatal type 1 diabetes or thyroiditis, and eczematous dermatitis. We report a patient with infantile onset IPEX syndrome who developed vitiligo, alopecia, and chronic diarrhea. Awaiting stem cell transplant, he had multiple episodes of sepsis and succumbed at the age of 10 months. The constellation of symptoms is important to prompt clinicians to suspect this rare syndrome as early hematopoietic stem cell transplantation is the only cure for IPEX patients.
摘要：
免疫失调,多内分泌病,肠病,X-linked(IPEX)的特点是未能茁壮成长，严重的慢性腹泻,新生儿1型糖尿病或甲状腺炎，和湿疹性皮炎.我们报告了一名患有婴儿发作性IPEX综合征的患者，他发展为白癜风，脱发,和慢性腹泻。等待干细胞移植，他有多次脓毒症发作,在10个月大时死亡.症状的星座对于提示临床医生怀疑这种罕见的综合征很重要，因为早期造血干细胞移植是IPEX患者的唯一治愈方法。
