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Electropherograms for the Sanger sequencing and schematic diagram of CD40LG. (A) The sequencing electropherograms indicate that the mutation c.516T > A is from the patient’s mother. (B) The intracellular domain (IC), trans-membrane domain (TM), extracellular unique domain (EU), and extracellular tumor necrosis factor homology domain of CD40LG are presented in the image. All affected residues/nucleotides in individuals with XHIGM with PAP were located within the TNFH domain
