Clinical findings in patient with RAC2 mutation. (A) Age at clinical presentation across groups: CA, reticular dysgenesis without deafness caused by constitutively active mutations; DN, dominant-negative, D57N; N, homozygous null; A, CID caused by activating mutations; NBS, detected by TREC NBS; AR, autosomal recessive. (B) Lymphocyte counts by age for each patient with data. Circles colored by presentation group, gray shading indicates normal range for age. (C) Patient cohort sorted by presentation group including sex (M, male; F, female), mutations, and presence of clinical findings. “H” denotes homozygosity for listed mutation. Gray shading of RAC2 function indicates identification by NBS. Clinical manifestations denoted by filled box. % CID, percent patients with CID-manifesting specified phenotype; LRTI, lower respiratory tract infection; nd, no data; URTI, upper respiratory tract infection; X, deceased. ∗Forty three of 44 patients with CID had available clinical data, where a indicates streptococcal abscesses; b, necrotizing pneumonia and pulmonary abscesses; c, Escherichia coli skin; d, Serratia marcescens; e, bacterial skin; f, Staphylococcus aureus and Streptococcus pyogenes.