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

Abstract

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 α(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.Q114X, paternal, novel mutation), c. 64G>A(p.E22X, maternal) were detected. After treatments of dihydrocortisone, voriconazole 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). Conclusion In cases of atypical clinical symptoms, whole exon sequencing helps early diagnosis (Chin J Endocrinol Metab, 2018, 34: 129-135) Key words: IMD41; IDDM10; IL2RA; Tregs; Gene mutation