免疫缺陷41型自身免疫性淋巴细胞增生伴胰岛素依赖型糖尿病10型一例并文献复习

Novel heterozygous mutation of the IL2RA gene in one Chinese girl with immunodeficiency 41 with lymphoproliferation and autoimmunity and diabetes mellitus, insulin.dependent 10： One case report and literature review

目的报道1例白细胞介素2受体α亚基（interleukin 2 receptor-α，IL2RA）基因突变引起的免疫缺陷41型自身免疫性淋巴细胞增生（immunodeficiency 41 with lymphoproliferation and autoimmunity, IMD41）及胰岛素依赖型糖尿病10型（diabetes mellitus, insulin-dependent 10, IDDM10）。 方法临床诊断结合基因测序。 结果本例报道1例7.5岁女童，因＂全身淋巴结肿大5年，乏力2个月，血糖波动20余天＂入院，伴真菌性肺炎、ANCA相关性血管炎。全外显子测序结果显示IL2RA基因复合杂合突变：c.340C〉T（p.Q114X，父系来源，新发突变）、c.64G〉A（p.E22K，母系来源）。经泼尼松、伏立康唑治疗结合糖尿病饮食后自身抗体转阴、血糖恢复正常、肺部病变减轻。文献复习提示国外报道IL2RA基因突变共5例患儿，均表现不同程度的感染（感染部位为肺部、皮肤、胃肠道等）及免疫异常（自身免疫疾病、淋巴结病、肝脾肿大、糖尿病等）。 结论对于临床症状不典型的病例，全外显子测序有助于早期诊断。

Objective To report a case of immunodeficiency 41 with lymphoproliferation and autoimmunity （ IMD41 ） and type 10 insulin-dependent diabetes mellitus （ IDDM10 ）, caused by mutations of the interleukin 2 receptor a （IL2RA） gene. Methods Clinical symptoms were colleted, while IL2RA gene was sequenced. Results Here we reported a girl of 7 years and 6 months old who came to our hospital presented with lymphadenovarix for 5 years, debilitation for 2 months and alternation of hyperglycemia and hypoglycemia for 20 days. She was subsequently diagnosed with fungal pneumonia and ANCA-associated vasculitis. All exons of IL2RA gene were sequenced. c. 340C〉T（p. Qll4X, paternal, novel mutation）, c. 64G〉A（ p. E22X, maternal） were detected. After treatments of dihydroeortisone, vorieonazole combined with diabetic diet plus raw cornstarch, the pulmonary lesions reduced, autoantibodies disappeared and the blood glucose returned to normal. Literature review suggested that totally 5 IL2RA gene mutation patients were reported, the major clinical features were recurrent infection （ infection of lung, skin, gastrointestinal tract ） and immune abnormalities （such as lymph node disease, autoimmune disease, hepatosplenomegaly, and diabetes mellitus ）. Conchlsion In cases of atypical clinical symptoms, whole exon sequencing helos early diagnosis