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. Author manuscript; available in PMC: 2020 Nov 6.
Published in final edited form as: Nature. 2020 May 6;583(7814):90–95. doi: 10.1038/s41586-020-2265-1

Figure 1. Description of the immunodeficiency cohort and disease associations in coding regions.

Figure 1

(a) Number of index cases recruited under different phenotypic categories (red – adult cases, blue – paediatric cases, lighter shade – sporadic (no family history of PID), darker shade - family history of PID). CVID – Common variable immunodeficiency, CID – combined immunodeficiency, and SCID – severe combined immunodeficiency. (b) Number of index cases with malignancy, autoimmunity and CD4+ lymphopenia. (black bar – total number of cases, blue bar - number of cases with AD-PID phenotype). (c) Number of patients with reported genetic findings subdivided by gene. Previously reported variants are those identified as immune disease-causing in the HGMD-Pro database.