Figure 2.

Clinical features and pedigree of case 2. (A) Eczema on the face. (B) Scars of Staphylococcus aureus infection on the scalp. (C) Onychomycosis on both thumbs. (D) Retained primary teeth. (E) Scoliosis. (F) Pedigree of the patient's family (left) and partial chromatograms of Sanger sequencing from the patient (middle) and control (right). A previously reported missense mutation (c.1144C>T, p.R382W) in exon 13 of STAT3 was identified as a heterogeneous mutation, which resulted in an arginine-to-tryptophan change at position 382. Squares indicate male, circle indicates female, solid symbol indicates affected individual, open symbols indicate unaffected individuals, and the arrow indicates proband. W, wild-type allele; M, mutation c.1144C>T.