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. Author manuscript; available in PMC: 2014 May 15.

Published in final edited form as: Science. 2013 Oct 17;342(6160):866–871. doi: 10.1126/science.1243292

Fig. 1 — (A) ○ and □ - unaffected; ● and ■ - affected; and - available data indicate recurrent infections. Age at the time of death is shown for patients who died ≤30 years of age. PIK3CD genotype is shown if known: wt, wild type allele encoding glutamic acid (E1021); mut, mutant allele encoding lysine (K1021). (B) Sequence chromatogram showing heterozygous mutation c.3061G>A in the PIK3CD gene leading to the E1021K amino-acid change in p110δ. CpG dinucleotide is underlined.

Inline graphic — (A) ○ and □ - unaffected; ● and ■ - affected; and - available data indicate recurrent infections. Age at the time of death is shown for patients who died ≤30 years of age. PIK3CD genotype is shown if known: wt, wild type allele encoding glutamic acid (E1021); mut, mutant allele encoding lysine (K1021). (B) Sequence chromatogram showing heterozygous mutation c.3061G>A in the PIK3CD gene leading to the E1021K amino-acid change in p110δ. CpG dinucleotide is underlined.