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.

The transgender children and adolescents （TCAs） face serious social dilemmas in the process of gender identity and expression， which hinders this group from seeking reasonable and equal rights to survival and development. From the perspective of equal rights and the theoretical framework of social dilemma， by interviewing TCAs who seek help from medical social workers in a hospital’s multi-disciplinary transgender clinic， this paper revealed that under the traditional system of “binary gender”， TCAs lacked social inclusiveness and infrastructure， which led to the two major social dilemmas of “social traps” and “social barriers” encountered by this group in the process of gender expression and gender identity. Specifically， the social gender selection of TCAs often leads to collective irrational reactions and gender punishment， preventing their legal and effective medical services. To this end， the research team used critical methodology to construct a joint disciplinary diagnosis and treatment path for TCAs with the participation of medical social workers， as well as verified that the path has significant intervention effects in rationalizing the needs of TCAs and their families， alleviating their psychological pressure and social adaptation problems in the process of gender identity， fostering a diverse dialogue environment in their families， as well as enhancing their self-efficacy and social participation， to provide assistahce to the TCAs groups in social difficulties， assisting their rights and interests be included in the child-friendly indicator system， and improving the whole society’s tolerance and understanding for TCAs group.