Inherited deficiency of the fourth component of human complement.

Inherited deficiency of the fourth component of human complement. Research Abstract Details 

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Inherited deficiency of the fourth component of human complement. Abstract Text:

The highly polymorphic fourth component of human complement (C4) is usually encoded by two genes, C4A and C4B, adjacent to the 21-hydroxylase (21-OH) genes, and is also remarkable by the high frequency of the null alleles, C4A*Q0 and C4B*Q0. Despite considerable structural homology, the gene products of the two loci differ in hemolytic activities, antigenic reactivities and covalent binding affinities to antigens and antibodies. Complete C4 deficiency is exceptional because this condition appears only in homozygotes for the very rare double-null haplotype C4AQ0,BQ0. In contrast, partial C4 deficiency is a common immune protein defect in all human populations as a consequence of the high frequency of the C4 half-null haplotypes. Complete C4 deficiency in most cases gives rise to SLE and an increased susceptibility to infections, and partial C4 deficiencies predispose to different auto-immune diseases related to extended HLA haplotypes bearing the C4 half-null haplotypes. Studies at the DNA level have shown that about half of the null alleles are due to deletions involving C4A and 21-OHA, C4B and 21-OHA or C4B and 21-OHB. Larger deletions including both C4A and C4B genes have never been observed. Partial C4 deficiency may be observed in combination with other complement deficiencies or immune defects, and allo- or auto-anti-C4 immunization is also a possible consequence of this genetic abnormality. Although the pathogenesis of the diseases related to complete and partial C4 deficiencies is not yet clearly understood, it is evident that C4 null alleles represent interesting markers and additive risk factors for autoimmune phenomena.

Inherited deficiency of the fourth component of human complement. Publishing Authors By Initials

For similar genetic phenomena: variation (genetics): polymorphism, genetic research abstracts see: genetic phenomena: variation (genetics): polymorphism, genetic research

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Inherited deficiency of the fourth component of human complement. Journal Published:

PUBLICATION TYPE: Review

Journal: Immunodeficiency reviews

VOLUME: 1

Page Numbers: 3-22

Journal Abbreviation: Immunodefic Rev

ISSN: 0893-5300

DAY: 6

MONTH: 03

YEAR: 1988

Inherited deficiency of the fourth component of human complement. Information

Number of References: 87

LANGUAGE: eng

NlmUniqueID: 9001383

Inherited deficiency of the fourth component of human complement. Keywords Mesh Terms:

KEYWORDS: Polymorphism, Genetic

MESH TERMS: biosynthesis

Chemical & Substance for Abstract: Inherited deficiency of the fourth component of human complement. Information

Substance Name: Complement C4b

Registry Number: 80295-50-7

Grant and Affiliation Information for Inherited deficiency of the fourth component of human complement.

AFFILIATION: Laboratoire de Recherches en Immunologie, Strasbourg, France.

Country: ENGLAND

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MEDLINETA: Immunodefic Rev

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