PMC5635439_01
(
a) Pedigree of the family (
b) domain mapping of the RAG1 p.E770K on RAG1 protein showing the variation lies on RAG1 domain highlighted with red triangle and (
c) capillary sequencing of the locus in the proband and family members. The homozygous variation c.2308G>A in the proband is marked with an asterisk.
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f1
He had a male sibling who expired at seven months of age due to persistent pneumonia and two unaffected female siblings, apart from a half-brother and half-sister both of whom were asymptomatic ( Figure 1A).