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Inherited p40phox deficiency differs from classic chronic granulomatous disease

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Figure 1. Identification of NCF4 mutations. (A) Pedigrees of 12 families showing allele segregation
Table 1. The clinical spectrum of p40phox deficiency KindredPatientMutationConsanguinityOriginSex (F/M)Follow-upAge at onset of symptoms (yr)Age at CGD diagnosis (yr)Clinical phenotype (infections, autoimmunity, microbiology, imaging, pathology results) P
Table 2. The clinical spectrum of p40phox deficiency KindredPatientMutationConsanguinityOriginSex (F/M)Follow-upAge at onset of symptoms (yr)Age at CGD diagnosis (yr)Clinical phenotype (infections, autoimmunity, microbiology, imaging, pathology results) P
Figure 2. p40 phox levels and NADPH oxidase activity of the NCF4-mutated alleles. (A) Western blot of total protein extracts from HEK293T cells expressing NCF4 cDNAs
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