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Article

Molecular characterization of Complement Factor I deficiency in two Spanish families.

Molecular immunology - 1 May 2008

Ponce-Castro Isabel María, González-Rubio Carolina, Delgado-Cerviño Eva María, Abarrategui-Garrido Cynthia, Fontán Gumersindo, Sánchez-Corral Pilar, López-Trascasa Margarita

Abstract excerpt

Complement Factor I (CFI) is a regulator of the classical and alternative pathways. CFI has enzymatic activity and is able to cleave C3b and C4b. Homozygous Factor I deficiency is associated with infectious and/or autoimmune diseases. Here we describe the biochemical and genetic characterization in two Spanish families with complete Factor I deficiency. In Family 1, the propositus suffered from several episodes...

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Source

Identifiers

PMID: 18374984
DOI: 10.1016/j.molimm.2008.02.008

Genes

CFI

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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