Disorders of innate immunity [DS:H02525] Primary immunodeficiency disease [DS:H01725]
Description
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.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
Immune system diseases
Primary immunodeficiency
H00103 Late complement pathway defects
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Primary immunodeficiencies
4A00 Primary immunodeficiencies due to disorders of innate immunity
H00103 Late complement pathway defects
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
Title
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.
