Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis

Figure 2

(a) Family pedigree and genotype. Compound heterozygosity was found in the index patient for c.1879delG, p.Asp627Thrfs4 (classified as known pathogenic) and c.1591C > T, p.Arg531 (predicted as a complete loss of function, unreported) and homozygosity was found in the siblings for c.1879delG. The mother was carrier for c.1879delG. Genetic material of the father was not accessible (familial reasons) and no further exploration on the inheritance mechanism was performed. (b) Clinical presentation of purpura fulminans at second admission. (c) Top: C6 gene structure, containing 18 exons, and pathogenic intronic mutations (n = 3) affecting the splicing of C6 are shown (orange); bottom: C6 protein structure encoded by the corresponding exons (italic) with known pathogenic missense/nonsense mutations in black (n = 8) and frameshift mutations in blue (n = 4), source: Human Gene Mutation Database. The position of the pathogenic mutations in the index patient is depicted (red, purple).

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