Fig. 4From: IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literatureIL2RG gene location of pathogenic hypomorphic mutations [27, 28] in 39 reported atypical X-SCID patients [1, 4, 6, 7, 9, 15, 17, 21, 22, 29,30,31,32,33,34,35,36] (S: Signaling sequence; C: Conserved cysteine residues, W: WSXWS box; B: box1/box2 domain)Back to article page