Deficiencies in complement components of the early classical pathway of complement activation are characterized by a predisposition to develop autoimmune disease. The factors involved are C1q, C1r, C1s, C2, C4.
1. |
Belin DC et al. (1980) Familial discoid lupus erythematosus associated with heterozygote C2 deficiency. |
2. |
Cole FS et al. (1985) The molecular basis for genetic deficiency of the second component of human complement. |
3. |
Callen JP et al. (1987) Subacute cutaneous lupus erythematosus in multiple members of a family with C2 deficiency. |
4. |
Efthimiou J et al. (1986) Heterozygous C2 deficiency associated with angioedema, myasthenia gravis, and systemic lupus erythematosus. |
5. |
Klemperer MR et al. (1966) Hereditary deficiency of the second component of complement (C'2) in man. |
6. |
Ruddy S et al. (1970) Inherited abnormalities of the complement system in man. |
7. |
None (1967) Inborn errors of the complement system of man. |
8. |
Colten HR et al. (1981) Genetics and biosynthesis of complement proteins. |
9. |
Provost TT et al. (1983) Homozygous C2 deficiency, lupus erythematosus, and anti-Ro (SSA) antibodies. |
10. |
McCarty DJ et al. (1981) Serologic studies in a family with heterozygous C2 deficiency. |
11. |
Böttger EC et al. (1986) Guinea pigs with inherited deficiencies of complement components C2 or C4 have characteristics of immune complex disease. |
12. |
Riggs JE et al. (1980) Heterozygous C2-deficiency and myasthenia gravis. |
13. |
Mortensen JP et al. (1980) Studies on the C2-deficiency gene in man. |
14. |
Thong YH et al. (1980) Homozygous deficiency of the second component of complement presenting with recurrent bacterial meningitis. |
15. |
Awdeh ZL et al. (1981) Complement-human histocompatibility antigen haplotypes in C2 deficiency. |
16. |
Lhotta K et al. (1990) Renal disease in a patient with hereditary complete deficiency of the fourth component of complement. |
17. |
Vergani D et al. (1985) Genetically determined low C4: a predisposing factor to autoimmune chronic active hepatitis. |
18. |
Ranford P et al. (1987) A high frequency of inherited deficiency of complement component C4 in Darwin Aborigines. |
19. |
Huang DF et al. (1995) Population and family studies of three disease-related polymorphic genes in systemic lupus erythematosus. |
20. |
Johnson CA et al. (1992) Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. |
21. |
Braun L et al. (1990) Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus. |
22. |
Welch TR et al. (1990) Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. |
23. |
Partanen J et al. (1989) Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis. |
24. |
Partanen J et al. (1988) C4 null phenotypes among lupus erythematosus patients are predominantly the result of deletions covering C4 and closely linked 21-hydroxylase A genes. |
25. |
Awdeh ZL et al. (1981) Genetic analysis of C4 deficiency. |
26. |
Barba G et al. (1993) Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression. |
27. |
Wolski KP et al. (1976) Genetic linkage between the HL-A system and a deficit of the second component (C2) of complement in four generations of a family. |
28. |
Johnson CA et al. (1992) Molecular heterogeneity of C2 deficiency. |
29. |
Boteva L et al. (2012) Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations. |
30. |
None (1986) Primary structure of human complement component C2. Homology to two unrelated protein families. |
31. |
Dunham I et al. (1987) Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis. |
32. |
Bentley DR et al. (1984) Isolation of cDNA clones for human complement component C2. |
33. |
Wetsel RA et al. (1996) Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 > Phe; Gly444 > Arg) cause impaired C2 secretion. |
34. |
D'Cruz D et al. (1992) Complement factor 2 deficiency: a clinical and serological family study. |
35. |
None (1960) Essential hypocomplementemia: report of a case. |
36. |
Simon S et al. (1991) A restriction fragment of the C2 gene is a unique marker for C2 deficiency and the uncommon C2 allele C2*B (a marker for type 1 diabetes). |
37. |
None (1968) Inherited c'2 deficiency in man: lack of immunochemically detectable c'2 protein in serums from deficient individuals. |