Objectives: To report a case of concomitance of diabetes mellitus, autoimmune hemolytic anemia, hepatosplenomegaly and lymphadenopathy in a 7-year girl.
Methods: Retrospective review of medical records of a patient with multiple autoimmune diseases followed at the Departments of Endocrinology and Metabolism, Childrens Hospital of Fudan University. This rare case was undergoing whole exome sequencing.
Results: This girl 2 year was diagnosed with hepatosplenomegaly and lymphadenopathy due to symptoms. When she was 7 years old, she was diagnosed with diabetes due to symptoms, laboratories work up and multiple dose injection insulin therapy was started. Her sister died of diarrhea during infant period. Her Hemoglobin fluctuated between 95 and 123 g/L with positive autoantibodies ANA and ANCA. Her family history was very unique. Her brother was diagnosed with neonatal diabetes and died of diarrhea at the age of one-month. A compound heterozygous mutation (p.E22X and p.Q114X) was found in exons 1 and 3 of the IL2RA gene.
Conclusions: This case report showed that a compound heterozygous IL2RA mutation contributed to autoimmune phenomena in this Chinese child.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology