case_images: PMC5635439_01
case_images: (
  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.
case_images: f1000research-5-13267-g0000.jpg
case_images: PMC5635439_01_f1000research-5-13267-g0000.jpg
case_images: f1
case_images: 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).