Skip to main content
. Author manuscript; available in PMC: 2018 Dec 1.
Published in final edited form as: J Allergy Clin Immunol. 2018 Mar 2;141(6):2303–2306. doi: 10.1016/j.jaci.2018.02.007

Figure 1. Gene variants and phenotypes of adults with RAG deficiency.

Figure 1

(A) Schematic representation of RAG1 and RAG2 adapted from Notarangelo et al. 2016 (ref E19). Variants in this cohort (17 in RAG1 and 8 in RAG2) are illustrated in red. Known pathogenic variants previously reviewed are shown as blue dots (ref E19). (B) The phenotypes of RAG deficiency in 15 patients including those from the NIHRBR-RD PID and Vienna cohort. (C) Presentation of lung disease. Bars represent age distribution, lines indicate median onset of lung disease, mean age of death, mean age (n=15).