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. 2013 Jul;98(7):1030–1038. doi: 10.3324/haematol.2012.077511

Figure 3.

Figure 3.

X-linked inheritance of the IL2RG gene locus and mutation analysis. (A) Pedigree of the family indicates the X-linked inheritance by the index (III-2) who is alive and well, and the affected brother (II:2) who died from X-CID. The patient’s mother (II:1), one of her sisters (II:4), and the grandmother (I:2) are carriers of the mutated IL2RG gene (circles with dots). (B) Gene sequence analysis is shown for the patient in leukocytes, and sorted total T, B and NK cell subsets. Fifty percent of T cells had a reversion mutation (back mutation, indicated in red). (C) Percentage reversion in T-cell subsets at t=2 years; (naïve CD45RA+CD27+, memory CD45RA−CD27+, effector CD45RA+/−CD27−). See also Online Supplementary Table S1.