Homozygous human C3 deficiency. The role of C3 in antibody production, C-1s-induced vasopermeability, and cobra venom-induced passive hemolysis.

Alper, Chester A.; Colten, Harvey R.; Gear, J. S. S.; Rabson, Arthur R.; Rosen, Fred S.

doi:10.1172/jci108263

Cited by 88 publications

(29 citation statements)

References 27 publications

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“…The mode of inheritance of C3 in the family would be consistent with an autosomal codominant trait as reported in other C3 deficiencies (8,9,24,27).…”

Section: Discussionsupporting

confidence: 82%

Hereditary Deficiency of the Third Component of Complement in Two Sisters With Systemic Lupus Erythematosus‐like Symptoms

Sano

Nishimukai

Kitamura

et al. 1981

Arthritis & Rheumatism

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We observed two sisters with lupus-like syndrome with homozygous C3 deficiencies. A 19-year-old woman and her 15-year-old sister developed malar rash, arthralgia, and photosensitivity, but antinuclear antibodies and LE cell preparations were negative. The older sister experienced recurrent bronchitis in her childhood, but the younger sister had no recurrent infections. Serum C3 was not detected immunochemically in either sister, and total complement activity and C3 hemolytic activity were extremely low.

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“…The mode of inheritance of C3 in the family would be consistent with an autosomal codominant trait as reported in other C3 deficiencies (8,9,24,27).…”

Section: Discussionsupporting

confidence: 82%

Hereditary Deficiency of the Third Component of Complement in Two Sisters With Systemic Lupus Erythematosus‐like Symptoms

Sano

Nishimukai

Kitamura

et al. 1981

Arthritis & Rheumatism

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“…The recombination frequency is about 12%. In humans, neither the electrophoretic variants (15,16) nor the inherited deficiencies of C3 (22) are linked to the MHR. It is unfortunate that the "C3-deficient" mutation in guinea pigs (23) has been lost, although it has not been established that the deficiency in the "classic CS" component (C3, C5, C6, C7, C8, C9) corresponded to the "modern C3."…”

Section: Discussionmentioning

confidence: 99%

Murine complement component 3: genetic variation and linkage to H-2.

Silva¹,

Hoecker²,

Day³

et al. 1978

Proc. Natl. Acad. Sci. U.S.A.

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Two electrophoretic variants of murine complement component 3 (C3) were detected by using high-voltage electrophoresis of fresh mouse serum in agarose gels. Most of the inbred strains tested were homozygous for the S allele (for the slow-migrating variant); only four out of 46 strains had the alternative F allele (fast variant). Pen-bred Swiss-Webster animals belonged to one of three phenotypes-S. F, or SF-and the genes responsible for this variation segregated in a strictly Mendelian manner. In three such crosses, with 52 offspring, C3 segregated with H-2 in 46 instances, corresponding to a recombination frequency of -0.12.

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“…Patients with deficiencies of C3 (2)(3)(4) and 6), as well as with dysfunction of C5 (7,8), have an enhanced susceptibility to certain bacterial infections. In addition, patients with deficiencies of the C attack mechanism proteins C6 (9, 10), C7 (11), and C8 (12) also seem to have a propensity to infections, particularly with bacteria of the Neisseria groups.…”

Section: Introductionmentioning

confidence: 99%

Inherited Deficiency of the Seventh Component of Complement Associated with Nephritis

Nemerow¹,

Gewürz²,

Osofsky³

et al. 1978

J. Clin. Invest.

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Homozygous human C3 deficiency. The role of C3 in antibody production, C-1s-induced vasopermeability, and cobra venom-induced passive hemolysis.

Cited by 88 publications

References 27 publications

Hereditary Deficiency of the Third Component of Complement in Two Sisters With Systemic Lupus Erythematosus‐like Symptoms

Hereditary Deficiency of the Third Component of Complement in Two Sisters With Systemic Lupus Erythematosus‐like Symptoms

Murine complement component 3: genetic variation and linkage to H-2.

Inherited Deficiency of the Seventh Component of Complement Associated with Nephritis

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