Hyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China

Figure 2

Sequencing results of STAT3 cDNA. (a) Heterozygous mutation in STAT3 genomic sequence of the patient. (b) Schematic of STAT3 amino acid structure and the identified mutation, H437P (1310A→C) in the DNA binding domain. (c) Pedigree of this family affected by the Hyper-IgE syndrome, the mutation was de novo, not inheritance.

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