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. 2023 Mar 8;220(5):e20221755. doi: 10.1084/jem.20221755

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© 2023 Sharma et al.

This article is available under a Creative Commons License (Attribution 4.0 International, as described at https://creativecommons.org/licenses/by/4.0/).

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Figure 1. — 16 patients with severe allergic disease and STAT6 variants in different protein domains. (A) Family pedigree of the 16 patients from 10 different families. Filled symbols = affected individual; unfilled symbols = unaffected individual. (B) Consensus negative selection (CoNeS) score for STAT6 in relation to the score for known IEI genes reported with inheritance pattern of either AD, AR, or both (AD + AR). (C) Frequency and CADD score for missense (black) and predicted LOF (pLOF, blue) STAT6 variants reported in a public database and STAT6 variants reported in our patient cohort (red). The dotted line corresponds to the mutation significance cutoff (MSC). (D) Schematic illustrating the protein domains of STAT6. Amino acid location of the variants shown are highlighted, with the length of the bar corresponding to the number of patients reported with variants at that site. (E) Structural model of the DNA-STAT6 homodimer complex showing location of the different STAT6 variants in relation to the DNA-binding interface.