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Article

Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.

Orphanet journal of rare diseases - 18 Jun 2012

Alba-Domínguez María, López-Lera Alberto, Garrido Sofía, Nozal Pilar, González-Granado Ignacio, Melero Josefa, Soler-Palacín Pere, Cámara Carmen, López-Trascasa Margarita

Abstract excerpt

BACKGROUND: Complement Factor I (CFI) is a serine protease with an important role in complement alternative pathway regulation. Complete factor I deficiency is strongly associated with severe infections. Approximately 30 families with this deficiency have been described worldwide. PATIENTS AND METHODS: We have studied five new Spanish families suffering from CFI deficiency. From 19 screened people, 7 homozygous,...

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Bacterial Infections
Complement C3
Complement C4
Complement Factor I
Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Diseases, Inborn

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Open in PubMed Open full text

Identifiers

PMID: 22710145
DOI: 10.1186/1750-1172-7-42
PMCID: PMC3458969

Genes

CFI

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.PMID 22710145Read ↗

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Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement DeficienciesSemantic proximity Read ↗

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Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.Semantic proximity Read ↗

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