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Hereditary Human Complement C3 Deficiency Owing to Reduced Levels of C3 mRNA
Author(s) -
Ulbrich A. G.,
Florido M. P. C.,
Nudelman V.,
Reis E. S.,
Baracho G. V.,
Isaac L.
Publication year - 2001
Publication title -
scandinavian journal of immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.934
H-Index - 88
eISSN - 1365-3083
pISSN - 0300-9475
DOI - 10.1046/j.1365-3083.2001.00934.x
Subject(s) - proband , microbiology and biotechnology , complement system , classical complement pathway , reverse transcriptase , lipopolysaccharide , messenger rna , in vitro , alternative complement pathway , chemistry , biology , immunology , polymerase chain reaction , antibody , biochemistry , gene , mutation
An 8‐year‐old son (L.A.S.) of consanguineous parents, presented recurrent bacterial infections, vasculitis and extremely low levels of serum C3 (0.15 µg/ml). The classical and alternative pathway haemolytic activities and the generation of opsonins and chemotactic factors derived from the activation of the complement system were markedly affected in the proband's serum. An in vitro addition of purified C3 restored the classical pathway‐dependent haemolytic activity of his serum. Autoradiographs of the proband's lipopolysaccharide (LPS)‐stimulated and 35 S‐labelled fibroblast supernatants after that the SDS‐PAGE revealed no C3 α or β chains. The amount of C3 mRNA synthesized by the proband's fibroblasts, as evaluated by reverse transcription–polymerase chain reaction (RT–PCR) assays, was greatly reduced.