Late complement component (the final common pathway C5b-C9 components) deficiencies (LCCDs) are all inherited in an autosomal recessive manner. In all cases, homozygous recessive patients have greatly reduced levels of the respective complement component. Generally, patients with deficiencies of C5, C6, C7, or C8 are particularly susceptible to systemic infections with Neisseria meningitidies and N. gonorrhoeae. Infections are rarely fulminant but are often recurrent and frequently involve unusual serotypes of the organism.
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
Wang X, Fleischer DT, Whitehead WT, Haviland DL, Rosenfeld SI, Leddy JP, Snyderman R, Wetsel RA
タイトル
Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.
