Pantai Hospital, Kuala Lumpur

Incomplete Kawasaki disease preceding the diagnosis of AICDA deficiency (hyper-IgM syndrome type 2)

Abstract Background Activation-induced cytidine deaminase (AICDA) deficiency is a rare autosomal recessive inborn error of immunity caused by biallelic pathogenic variants in AICDA . It is characterised by defective immunoglobulin class-switch recombination, resulting in recurren...