Figure 1.

(A) Family pedigree of the patient. (B) Sanger sequencing confirmed the presence of the mutation in exon 1 (c.115G>A; p.Asp39Asn). The heterozygous (mother) and WT states. (C) Scarring alopecia, hypotrichosis with ringworm of the scalp. (D) Schematic diagram of the IL-2RG protein, with its extracellular (EC), transmembrane (TM), intracellular (IC) domains. In red the mutation carried by the patient and in black the positions affected by the mutations already described in the literature.