Early-onset type 1 diabetes mellitus in a child with a pathogenic CTLA4 variant complicated by generalized lipodystrophy and severe insulin resistance: a case report and literature review. (PubMed, Transl Pediatr) - Sep 12, 2026 - "Treatment with abatacept normalized liver function but did not improve glycemic control or insulin resistance...This report established the first association between a pathogenic CTLA4 variant and AGL, which expands the known clinical phenotypic spectrum of CTLA4-related immune dysregulation disorders. CTLA4 genetic testing should be considered in patients presenting with early-onset T1DM and unexplained lipodystrophy to enable early diagnosis and guide personalized management."
IO biomarker • Journal • Allergy • Diabetes • Endocrine Disorders • Hepatology • Immunology • Lipodystrophy • Liver Failure • Metabolic Disorders • Type 1 Diabetes Mellitus • CTLA4 • LEP
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Juan Li; Lingwen Ying; Qianwen Zhang; Qun Li; Ru-En Yao; Shiyang Gao; Tingting Yu; Xiumin Wang; Yu Ding
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