Complement factor I deficiency in a family with recurrent infections

Complement factor I deficiency in a family with recurrent infections

Autor Leitao, M. F. Google Scholar
Vilela, MMS Google Scholar
Rutz, R. Google Scholar
Grumach, A. S. Google Scholar
Condino-Neto, A. Google Scholar
Kirschfink, M. Google Scholar
Instituição Univ Heidelberg
Universidade Federal de São Paulo (UNIFESP)
Resumo Factor I deficiency causes a permanent, uncontrolled activation of the alternative pathway resulting in an increased turnover of C3 and consumption of factor B, factor H and properdin. Factor I deficiency is clinically associated with recurrent bacterial infections already in early infancy, mainly affecting the upper and lower respiratory tract, or presenting as meningitis or septicemia. We here report on a Brazilian family (rt = 9) with known consanguinity, where in 3/7 children, suffering from chronic otitis, meningitis, and respiratory infections, a complete factor I deficiency was recognized. One of the patients died after fulminant sepsis. Hemolytic activity of the alternative pathway was not detectable in the patients' sera due to decreased plasma concentrations of C3, factor B and properdin. As a consequence of factor I deficiency, C3b could not be metabolized with the result that no C3-derived split products (C3dg/C3d) were detectable in the patients' sera. in vitro reconstitution with purified factor I restored the regulatory function in the patients' sera with the subsequent cleavage of C3b to C3c and C3dg. Factor H levels were decreased in all patients' sera and found to be tightly complexed with C3b resulting in a modified electrophoretic mobility. Upon factor I reconstitution, factor Fl was released from C3b regaining its beta(1) electrophoretic mobility. Complement-mediated biological functions like opsonization of bacteria, chemotactic activity and phagocytosis in these patients were impaired. the parents (cousins, 2nd degree) and 3/4 siblings had significantly reduced factor I plasma levels without further alteration in their complement profile. 3 of these obviously heterozygously deficient family members suffered from recurrent bacterial infections of different frequency and severity. (C) 1997 Elsevier Science B.V.
Palavra-chave factor I deficiency
complement
bacterial infections
factor H
Idioma Inglês
Data de publicação 1997-12-01
Publicado em Immunopharmacology. Amsterdam: Elsevier B.V., v. 38, n. 1-2, p. 207-213, 1997.
ISSN 0162-3109 (Sherpa/Romeo, fator de impacto)
Publicador Elsevier B.V.
Extensão 207-213
Fonte http://dx.doi.org/10.1016/S0162-3109(97)00080-5
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000071614100024
Endereço permanente http://repositorio.unifesp.br/handle/11600/25819

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