Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Terminal pathway complement deficiencies

If the terminal pathway of complement activation is altered by deficiencies of factors C5-C9, a predisposition to infection may be recognized, Neisserial in particular.


Hereditary complement disorders
CR1 deficiency
Complement C2 deficiency
Complement C3 deficiency
Complement C5 deficiency
Complement C6 deficiency
Complement C7 deficiency
Complement C8 deficiency
Complement C9 deficiency
Complement component C4 deficiency
Complement factor D deficiency
Complement factor I deficiency
Early pathway complement deficiencies
Hereditary Angioedema
Properdin deficiency, X-linked
Terminal pathway complement deficiencies
Thrombotic microangiopathies



Wetsel RA et al. (1990) Deficiency of the murine fifth complement component (C5). A 2-base pair gene deletion in a 5'-exon.


Wang X et al. (1995) 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.


Nishizaka H et al. (1996) Genetic bases of human complement C7 deficiency.


Fernie BA et al. (1997) Molecular bases of C7 deficiency: three different defects.


Fernie BA et al. (1998) Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.


Snyderman R et al. (1979) Deficiency of the fifth component of complement in human subjects. Clinical, genetic and immunologic studies in a large kindred.


Rosenfeld SI et al. (1976) Hereditary deficiency of the fifth component of complement in man. II. Biological properties of C5-deficient human serum.


Sanal O et al. (1992) Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families.


Shield JP et al. (1992) Lethal congenital erythroderma: a newly recognised genetic disorder.


Asghar SS et al. (1991) Hereditary deficiency of C5 in association with discoid lupus erythematosus.


Schifferli JA et al. (1985) Meningococcal meningitis in the first case of complement deficiency.


Glover MT et al. (1988) Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency.


Simon C et al. (1965) [On a fatally progressing disease of 3 brothers under the picture of erythrodermia desquamativa Leiner].


Jacobs JC et al. (1972) Fatal familial Leiner's disease: a deficiency of the opsonic activity of serum complement.


Miller ME et al. (1970) A familial deficiency of the phagocytosis-enhancing activity of serum related to a dysfunction of the fifth component of complement (C5).


Fukumori Y et al. (1998) Terminal complement component deficiencies in Japan.


Heusinkveld RS et al. (1974) Hereditary deficiency of the sixth component of complement in man. II. Studies of hemostasis.


Raum D et al. (1980) Genetic polymorphism of serum complement components in the chimpanzee.


OMIM.ORG article

Omim 609536 [^]
Update: April 29, 2019