Fig. 2a, b CID with associated or syndromic features. Ab antibody, AD autosomal dominant transmission, AD DN autosomal dominant transmission with dominant negative effect, ANA anti-nuclear antibodies, ANCA anti-neutrophil cytoplasm antibodies, AR autosomal recessive transmission, Bc B cells, BCG bacillus Calmette-Guerin, BCR B cell receptor, CD cluster of differentiation, CID combined immunodeficiency of T and B cells, CMV cytomegalovirus, CNS central nervous system, def deficiency, DNA deoxyribonucleic acid, EBV Epstein-Barr virus, EDA anhidrotic ectodermal dysplasia, GOF gain-of-function, HIES hyper IgE syndrome, FILS facial dysmorphism, immunodeficiency, livedo and short stature, ID immunodeficiency, Ig immunoglobulins, IL-6 interleukin-6, IUGR intrauterine growth retardation, LOF loss-of-function, MCC mucocutaneous candidiasis, Nl normal, NK natural killer, PHA phytohemagglutinin, PPS polysaccharides, SCID severe combined immunodeficiency, sd syndrome, Tc T cells, TCR T cell receptor, TREC T cell receptor excision circle, XL X-linked transmission