Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity.
Asia Pacific allergy(2023)
摘要
We report 2 patients who first developed cutaneous manifestations, followed by autoimmune phenomena, infections, and hypogammaglobulinemia. They were initially diagnosed with common variable immunodeficiency; however, the diagnosis was revised to cytotoxic T-lymphocyte antigen 4 haploinsufficiency after genetic and functional testing.
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关键词
autoimmune manifestations,southeast asian ethnicity
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