Figure 1. Mutation in PIK3R1 resulting in the absence of B lineage cells. (A) The intron/exon organization of PIK3R1 is shown, with the exons encoding p85α, p50α, and p55α color-coded to match the schematic drawing of the proteins. The specific mutation in exon 6 of PIK3R1 is shown above the gene. (B) The pedigree of the patient’s family is shown. Males who died of infection at <2 yr of age are indicated by a diagonal line through a square. The numbers within the square and circle indicate the number of males and females, respectively. The patient is indicated by an arrow. (C) PCR-based assay for mutation screening is shown. The lanes labeled HC contain digested PCR products from healthy controls. The lanes labeled Pt, M, and F contain digested PCR products from the patient, her mother, and her father, respectively.
Figure 1.

Mutation in PIK3R1 resulting in the absence of B lineage cells. (A) The intron/exon organization of PIK3R1 is shown, with the exons encoding p85α, p50α, and p55α color-coded to match the schematic drawing of the proteins. The specific mutation in exon 6 of PIK3R1 is shown above the gene. (B) The pedigree of the patient’s family is shown. Males who died of infection at <2 yr of age are indicated by a diagonal line through a square. The numbers within the square and circle indicate the number of males and females, respectively. The patient is indicated by an arrow. (C) PCR-based assay for mutation screening is shown. The lanes labeled HC contain digested PCR products from healthy controls. The lanes labeled Pt, M, and F contain digested PCR products from the patient, her mother, and her father, respectively.

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