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Identification of a heterozygous mutation in STAT1 leading to a gain of function. (A) Sanger sequencing revealed a heterozygous c.504T>A mutation in exon 7 resulting in a missense mutation in the coiled-coil domain (p.D168E). (B) Increased phosphorylation of STAT1 following in vitro stimulation of patient's EBV-LCL with IFNα and IFNγ.
