Inherited deficiency of the third component of human complement (C'3).

The Journal of clinical investigation ·Vol. 48 ·No. 3 ·1969-03-00 ·Pages 553-7

Alper CA, Propp RP, Klemperer MR, Rosen FS

Abstract

A kindred has been investigated in which seven individuals were found to have half-normal serum concentrations of the third component of complement (C'3). This partial deficiency was transmitted as an autosomal dominant trait. Affected individuals were entirely healthy. Hemolytic complement titers were slightly reduced but immune adherence titers and reagent titrations of the classical complement components were normal.Examination for C'3 allotypes revealed that all affected individuals had patterns resembling those of homozygotes. Analysis of the inheritance of C'3 structural genes disclosed that the most likely mechanism for partial C'3 deficiency in this family was nonexpression of one allele.

MeSH Terms

Blood Protein Electrophoresis Complement System Proteins/analysis Erythrocytes/analysis Genotype Hemolysis Humans Hypoproteinemia/blood,genetics Pedigree

Chemicals

Complement System Proteins

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Alper C A

Propp R P

Klemperer M R

Rosen F S

References (30)

30 references, click to expand

An improved procedure for starch-gel electrophoresis: further variations in the serum proteins of normal individuals.
Biochem J. 1959 Mar;71(3):585-7 PMID: 13638269
Hereditary deficiency of the second component of complement in man: an immunochemical study.
J Immunol. 1969 Jan;102(1):168-71 PMID: 4179558
Hereditary deficiency of the second component of complement (C'2) in man.
J Clin Invest. 1966 Jun;45(6):880-90 PMID: 4161820
ISOLATION OF BETA IF-GLOBULIN FROM HUMAN SERUM AND ITS CHARACTERIZATION AS THE FIFTH COMPONENT OF COMPLEMENT.
J Exp Med. 1965 Aug 1;122:277-98 PMID: 14316946
DISTRIBUTION, INHERITANCE, AND PROPERTIES OF AN ANTIGEN, MUB1, AND ITS RELATION TO HEMOLYTIC COMPLEMENT.
J Exp Med. 1964 Nov 1;120:897-924 PMID: 14247728
ISOLATION AND DESCRIPTION OF THE FOURTH COMPONENT OF HUMAN COMPLEMENT.
J Exp Med. 1963 Sep 1;118:447-66 PMID: 14078003
Human C'3: evidence for the liver as the primary site of synthesis.
Science. 1969 Jan 17;163(3864):286-8 PMID: 4883617
Hereditary variants of serum alpha-1-antitrypsin.
Am J Hum Genet. 1965 Nov;17(6):466-72 PMID: 4158556
ACTION OF COMPLEMENT IN HEREDITARY ANGIONEUROTIC EDEMA: THE ROLE OF C'1-ESTERASE.
J Clin Invest. 1964 Nov;43:2204-13 PMID: 14223932
Starch gel electrophoresis in a discontinous system of buffers.
Nature. 1957 Dec 28;180(4600):1477-9 PMID: 13493570
Activity of mouse complement.
J Immunol. 1962 Dec;89:861-7 PMID: 13974902
The inheritance of serum haptoglobin types in American Negroes: evidence for a third allele Hp-2m.
Am J Hum Genet. 1960 Jun;12:160-9 PMID: 13827945
Electrophoretic studies of the conversion products of serum beta-1C-globulin.
Immunology. 1967 Mar;12(3):313-9 PMID: 4164033
Genetic polymorphism of the third component of human complement (C'3).
J Clin Invest. 1968 Sep;47(9):2181-91 PMID: 5675433
Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies.
Anal Biochem. 1966 Apr;15(1):45-52 PMID: 5959431
Inherited c'2 deficiency in man: lack of immunochemically detectable c'2 protein in serums from deficient individuals.
Science. 1968 Sep 13;161(3846):1149-51 PMID: 17812292
PULMONARY EMPHYSEMA AND ALPHA1-ANTITRYPSIN DEFICIENCY.
Acta Med Scand. 1964 Feb;175:197-205 PMID: 14124635
C'3 synthesis in the human fetus and lack of transplacental passage.
Science. 1968 Nov 8;162(3854):672-3 PMID: 4177644
Measurements of complement by agglutination of human erythrocytes reacting in immune-adherence.
J Immunol. 1963 Jan;90:86-97 PMID: 13938807
DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.
Proc Natl Acad Sci U S A. 1963 Sep;50:481-5 PMID: 14067093
Cytogenetics of genomic exclusion in Tetrahymena.
Genetics. 1967 Apr;55(4):797-822 PMID: 6036954
Alper CA, Rosen FS: Studies of the in vivo behavior of human C'3 in normal subjects and patients.
J Clin Invest. 1967 Dec;46(12):2021-34 PMID: 6074005
ANTIGEN-ANTIBODY CROSSED ELECTROPHORESIS.
Anal Biochem. 1965 Feb;10:358-61 PMID: 14302464
Quantitative nitroblue tetrazolium test in chronic granulomatous disease.
N Engl J Med. 1968 May 2;278(18):971-6 PMID: 4384563
A BIOCHEMICAL ABNORMALITY IN HEREDIATRY ANGIONEUROTIC EDEMA: ABSENCE OF SERUM INHIBITOR OF C' 1-ESTERASE.
Am J Med. 1963 Jul;35:37-44 PMID: 14046003
Gene action in the X-chromosome of the mouse (Mus musculus L.).
Nature. 1961 Apr 22;190:372-3 PMID: 13764598
CURRENT CONCEPTS OF THE GENETICS OF THE THALASSEMIAS.
Cold Spring Harb Symp Quant Biol. 1964;29:399-413 PMID: 14278485
Deficiency of the sixth component of complement in rabbits with an inherited complement defect.
J Exp Med. 1966 Oct 1;124(4):773-85 PMID: 5922290
Hereditary deficiency of the second component of complement (C'2) in man: further observations on a second kindred.
J Immunol. 1967 Jan;98(1):72-8 PMID: 6018771
HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS.
Science. 1965 May 14;148(3672):957-8 PMID: 14277836

Article Info

Journal

The Journal of clinical investigation

Abbr.

J Clin Invest

ISSN

0021-9738

DOI

10.1172/JCI106013

Published

1969-03-00

Pages

553-7

Language

English

Region

United States

NLM ID

7802877

PMCID

PMC535720

Subset

External Links

PubMed source DOI: 10.1172/JCI106013 PMC Full Text View journal details

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Inherited deficiency of the third component of human complement (C'3).

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