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Article

Molecular characterization of two novel cases of complete complement inhibitor Factor I deficiency.

Molecular immunology - 1 Apr 2011

Nita Izabela M, Genel Ferah, Nilsson Sara C, Smart Joanne, Truedsson Lennart, Choo Sharon, Blom Anna M

Abstract excerpt

Factor I (FI) is the major complement inhibitor that degrades activated complement components C3b and C4b in the presence of specific cofactors. Complete FI deficiency results in secondary complement deficiency due to uncontrolled spontaneous alternative pathway activation. In this study we describe two unrelated patients with complete FI deficiency and undetectable alternative complement pathway activity. Both...

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Identifiers

PMID: 21316765
DOI: 10.1016/j.molimm.2011.01.012

Genes

CFI

Variants

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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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