Table 2.

Combined immunodeficiencies with associated or syndromic features

Total number of mutant genes in Table 2: 69. New inborn errors of immunity: 7 (MCM10 [29, 30], AR and AD IL6ST [31–33], CRACR2A [27], DIAPH1 [34], IKZF3 [25, 26], CD28 [28]). Unknown cause of DiGeorge syndrome, unknown cause of CHARGE syndrome, unknown gene(s) within 10p13-14 deletion responsible for phenotype

EDA ectodermal dysplasia anhidrotic, HSV herpes simplex virus, VZV varicella zoster virus, BCG Bacillus Calmette-Guerin, NBS newborn screen, TREC T cell receptor excision circle (biomarker for low T cells used in NBS), IUGR intrauterine growth retardation