Komplement C2-Mangel

Ruddy S et al. (1970) Inherited abnormalities of the complement system in man.

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).

None (1968) Inherited c'2 deficiency in man: lack of immunochemically detectable c'2 protein in serums from deficient individuals.

Böttger EC et al. (1986) Guinea pigs with inherited deficiencies of complement components C2 or C4 have characteristics of immune complex disease.

Cole FS et al. (1985) The molecular basis for genetic deficiency of the second component of human complement.

Seligmann M et al. (1979) Hereditary C2 deficiency associated with common variable immunodeficiency.

Gewurz A et al. () Homozygous C2 deficiency with fulminant lupus erythematosus: severe nephritis via the alternative complement pathway.

Callen JP et al. (1987) Subacute cutaneous lupus erythematosus in multiple members of a family with C2 deficiency.

Efthimiou J et al. (1986) Heterozygous C2 deficiency associated with angioedema, myasthenia gravis, and systemic lupus erythematosus.

Klemperer MR et al. (1966) Hereditary deficiency of the second component of complement (C'2) in man.

Wahl R et al. (1979) C2 deficiency and a lupus erythematosus-like illness: family re-evaluation.

Day NK et al. (1976) Linkage of gene for C2 deficiency and the major histocompatibility complex MHC in man. Family study of a further case.

None (1967) Inborn errors of the complement system of man.

Colten HR et al. (1981) Genetics and biosynthesis of complement proteins.

Provost TT et al. (1983) Homozygous C2 deficiency, lupus erythematosus, and anti-Ro (SSA) antibodies.

McCarty DJ et al. (1981) Serologic studies in a family with heterozygous C2 deficiency.

Belin DC et al. (1980) Familial discoid lupus erythematosus associated with heterozygote C2 deficiency.

Riggs JE et al. (1980) Heterozygous C2-deficiency and myasthenia gravis.

Mortensen JP et al. (1980) Studies on the C2-deficiency gene in man.

Thong YH et al. (1980) Homozygous deficiency of the second component of complement presenting with recurrent bacterial meningitis.

Awdeh ZL et al. (1981) Complement-human histocompatibility antigen haplotypes in C2 deficiency.

Kim Y et al. (1977) Inherited deficiency of the second component of complement (C2) with membranoproliferative glomerulonephritis.

None (1960) Essential hypocomplementemia: report of a case.

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.

Johnson CA et al. (1992) Molecular heterogeneity of C2 deficiency.

Jönsson G et al. (2005) Hereditary C2 deficiency in Sweden: frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease.

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.

Saevarsdottir S et al. (2007) Mannan-binding lectin may facilitate the clearance of circulating immune complexes--implications from a study on C2-deficient individuals.

Hussain A et al. (2007) C2 deficiency primary meningococcal arthritis of the elbow by Neisseria meningitidis serogroup Y in a 12-year old girl.

Yuste J et al. (2010) Impaired opsonization with complement and phagocytosis of Streptococcus pyogenes in sera from subjects with inherited C2 deficiency.

Hauck F et al. (2011) Complement C2 deficiency disarranging innate and adaptive humoral immune responses in a pediatric patient: treatment with rituximab.

Jönsson G et al. (2012) Vaccination against encapsulated bacteria in hereditary C2 deficiency results in antibody response and opsonization due to antibody-dependent complement activation.

Miller EC et al. (2012) Overcoming C2 deficiency.

None (1986) Primary structure of human complement component C2. Homology to two unrelated protein families.

Dunham I et al. (1987) Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis.

Raum D et al. (1979) Mapping of the structural gene for the second component of complement with respect to the human major histocompatibility complex.

Bentley DR et al. (1984) Isolation of cDNA clones for human complement component C2.

Wetsel RA et al. (1996) Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 > Phe; Gly444 > Arg) cause impaired C2 secretion.

Raum D et al. (1976) The chromosomal order of genes controlling the major histocompatibility complex, properdin factor B, and deficiency of the second component of complement.

Leddy JP et al. (1975) Hereditary complement (C2) deficiency with dermatomyositis.

Einstein LP et al. (1975) Biosynthetic defect in monocytes from human beings with genetic deficiency of the second component of complement.

Day NK et al. (1975) Hereditary C2 deficiency: Genetic studies and association with the HL-A system.

D'Cruz D et al. (1992) Complement factor 2 deficiency: a clinical and serological family study.

Mahowald ML et al. (1979) Linkage relationship of C2 deficiency, HLA and glyoxalase I loci.

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