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. Author manuscript; available in PMC: 2021 Jun 1.
Published in final edited form as: J Allergy Clin Immunol. 2020 Jan 13;145(6):1664–1672.e10. doi: 10.1016/j.jaci.2019.12.908

Figure 1. Analysis of ADA2 mutations by patient phenotype.

Figure 1.

A) Schematic of literature review and case selection for mutation analysis. B) Venn diagram of unique ADA2 mutations illustrating overlaps between disease phenotypes. C) Display of ADA2 gene structure illustrating the distribution of mutations associated with different phenotypes. Shared mutations are displayed by color coding. D) Circle charts illustrating the types of mutations associated with each phenotype. Analysis of individual alleles is displayed in the upper panel while analysis of homozygous individuals is shown in the lower panel.