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.
Keywords: Common variable immunodeficiency; cytotoxic T-lymphocyte antigen 4 haploinsufficiency; hypogammaglobulinemia; inborn errors of immunity.
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