TY -的A2北城,Toshihiro AU -雅各布森,吉尔d . AU -布鲁萨德,朱莉娅·r . AU -马什,考特尼非盟-纽厄尔,布兰登PY - 2021 DA - 2021/12/13 TI -衰减的自身免疫现象患者自身免疫Polyglandular综合征1型SP - 6009141六世- 2021 AB -自身免疫性Polyglandular综合征1型(APS1)是一个进步的危及生命的疾病没有治愈。目前的治疗涉及替代激素不足导致的自身免疫性破坏多种内分泌器官。我们报告一个女孩的疾病进展迅速,直到她开始在免疫抑制药物。健康的6岁女孩没有显著的病史了新的hypocalcemic癫痫发作和初级hypoparathyroidism。Howell-Jolly身体符合自身免疫性hyposplenism也指出。基因测试显示复合杂合性2在自身免疫性疾病有关的变异调节器(问卷调查)基因。她后来开发的肝酶升高,原发性肾上腺功能不全,脱发totalis。血清学检查显示21-hydroxylase抗体,内在因素和平滑肌。氢化可的松是肾上腺机能不全了。不久之后,她的肝酶规范化,平滑肌抗体水平开始下降。 Serologic testing performed at age 11 revealed seropositivity for glutamic acid decarboxylase (GAD) antibodies, antinuclear antibodies, and Sjögren syndrome A (SSA) antibodies. At age 12, she was given 2 doses of rituximab. Hair loss rapidly progressed to alopecia totalis and then to alopecia universalis, at which time oral methotrexate treatment was initiated. For the past 7 years while on glucocorticoid and methotrexate treatment, our patient has displayed normalization of 2 antibodies, a lack of progression to additional autoimmune diseases, and experienced reversal of alopecia universalis. SN - 2090-6501 UR - https://doi.org/10.1155/2021/6009141 DO - 10.1155/2021/6009141 JF - Case Reports in Endocrinology PB - Hindawi KW - ER -