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(A) Family pedigree of the patients. P2 is the index patient diagnosed with IgG4-RD. (B) Immunohistochemical analysis of a submandibular gland from P2 showing infiltration with IgG4+ cells. Scale bars: 100 μm. Original magnification, ×2 (insets). (C) Variants found by whole-genome sequencing that segregated with disease. (D) Schematic representation of variants in the IKAROS (encoded by IKFZ1) and UBR4 proteins.
