Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity.

Xin Rong LimYi Wye LaiChoon Guan ChuaYen Loo LimSiong See Joyce LeeChia Wei LimYu-Hor Bernard ThongWei-Lynn Justina Tan

Published in: Asia Pacific allergy (2023)

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.

Keyphrases

end stage renal disease
multiple sclerosis
ejection fraction
newly diagnosed
chronic kidney disease
drug induced
gene expression
dna methylation
patient reported outcomes
copy number