The chromosomal order of genes controlling the major histocompatibility complex, properdin factor B, and deficiency of the second component of complement.

Raum, Donald; Glass, David N.; Carpenter, Charles B.; Alper, Chester A.; Schur, Peter H.

doi:10.1172/jci108578

Cited by 60 publications

(24 citation statements)

References 39 publications

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“…Low factor B has been noted previously to be associated with C2 deficiency (19), and it is shown that the genes for factor B and C2 are closely linked on the sixth chromosome (20). Our findings regarding factor B are of particular interest in that they suggest two populations of CZdeficient patients4ne with low normal CH50 levels and normal factor B levels, the other with low CH50 levels and low factor B levels.…”

Section: Discussionsupporting

confidence: 72%

Familial discoid lupus erythematosus associated with heterozygote c2 deficiency

Belin

Bordwell

Einarson

et al. 1980

Arthritis & Rheumatism

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Two siblings with chronic discoid lupus erythematosus and several family members were found with heterozygous C2 deficiency. An association with histocompatibility markers HLA‐B 18 and HLA‐D w2 was demonstrated, and the slow allotype of factor B was present. Linkage studies in this family suggested a close linkage between the C2 deficiency gene and genes coding for B18, Dw2, and BfS antigens. One HLA‐A CB/DBF recombinant was observed showing closer linkage between HLA‐D and Bf than between HLA‐B and Bf.

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Section: Discussionsupporting

confidence: 72%

Familial discoid lupus erythematosus associated with heterozygote c2 deficiency

Belin

Bordwell

Einarson

et al. 1980

Arthritis & Rheumatism

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“…Indeed, AIO/B18 has been found in most patients with C2D (2,29.30), including 4 ( 1 , I 2,3 1,32) of the 7 aforementioned individuals with C2D-SLE in whom HLA studies have been reported. A n even more significant linkage disequilibrium has been shown between the C2" and HLA-D loci (33,34), with C2" and HLA-B tentatively mapped on opposite sides of HLA-D (35)(36)(37). Histocompatibility genes have also been linked with those controlling synthesis of factor B (36)(37)(38).…”

Section: Aio Aw24 Aio Aio a 2 Aio A 2 Aio Aio Aio A 2 Aw24mentioning

confidence: 99%

“…A n even more significant linkage disequilibrium has been shown between the C2" and HLA-D loci (33,34), with C2" and HLA-B tentatively mapped on opposite sides of HLA-D (35)(36)(37). Histocompatibility genes have also been linked with those controlling synthesis of factor B (36)(37)(38). The levels of factor B in patient Vi T and his 8 immediate relatives, however, showed no apparent relationship to C or HLA phenotypes or inheritance; rather, the results of these and other studies of factor B levels in C2D homo-and heterozygotes ( I , 6, 8, 12, 39) would seem to indicate an acquired, instead of inborn, basis for the decreases observed.…”

Section: Aio Aw24 Aio Aio a 2 Aio A 2 Aio Aio Aio A 2 Aw24mentioning

confidence: 99%

Homozygous C2 deficiency with fulminant lupus erythematosus. severe nephritis via the alternative complement pathway

Gewurz

Lint

Roberts

et al. 1978

Arthritis & Rheumatism

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Absence of C2 was identified in an 18-year-old white male with progressive and rapidly fatal lupus nephritis. Genetic studies of the patient and 8 family members linked this deficiency with the HLA haplotype A10/B18, for which the patient was homozygous. High titers (1 : 1600) of anti-RNP antibodies, as well as antibodies to double-stranded DNA, were present. Serum levels of properdin factor B were persistently decreased, whereas levels of Clq and C3 intermittently were low. Biopsies of skin and kidney showed typical SLE histopathology with deposition of immunoglobulins and early-and late-acting C components; properdin was deposited in the kidney. Despite the inability of the patient's serum to mediate lysis through the classic C pathway, C-dependent lysis through the alternative pathway was readily achieved USing either unsensitized rabbit cells in gels or mixtures of guinea pig cells and zymosan as the indicator system. These studies thus reveal a new association of fatal lupus nephritis with homozygous C2 deficiency and show From the

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“…The structural locus for BF is closely linked to HLA in man (23). No crossover has yet been observed between C2*QO and BF (24) or C2 and BF (10). Finally, the loci for C2, BF, C4A, and C4B are thought to be close to HLA-D and HLA-DR with no observed recombination between them (25).…”

Section: Introductionmentioning

confidence: 99%