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(A) STAT1 GOF mutation sequence in the patient and his parents. The patient had a heterozygous mutation in exon 10 of the STAT1 gene (Y287N, nt.859T > A). The parents had no mutations. (B) Th17 assay. Peripheral blood mononuclear cells from the patient and a control were isolated and stimulated with phorbol myristate acetate and ionomycin. Intracellular IL-17 was measured by flow cytometry.
