Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of clinical immunology - 1 Nov 2017

Franco-Jarava Clara, Álvarez de la Campa Elena, Solanich Xavier, Morandeira-Rego Francisco, Mas-Bosch Virgínia, García-Prat Marina, de la Cruz Xavier, Martín-Nalda Andrea, Soler-Palacín Pere, Hernández-González Manuel, Colobran Roger

Abstract excerpt

The complement system is an important effector arm of innate immunity and plays a crucial role in the defense against common pathogens. But effective defense and maintenance of homeostasis requires a careful balance between complement activation and regulation. Factor I (FI) is one of the most important regulators of the complement system. Complete FI deficiency is a rare autosomal recessive disorder typically...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bacterial Vaccines
Share to Complement C3

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Complement Factor I

Share to Delayed Diagnosis

Share to Early Diagnosis

Share to Infections

Share to Meningitis, Bacterial

Share to Vaccination

Source

Identifiers

PMID: 28942469
DOI: 10.1007/s10875-017-0447-x

Genes

CFI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.PMID 28942469Read ↗

Complete Complement Factor I (CFI) deficiency: a systematic review of forty-nine patients including three novel cases.Semantic proximity Read ↗

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic MethodsSemantic proximity Read ↗

Rapid genome sequencing identifies novel variants in complement factor I.Semantic proximity Read ↗

Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency.Semantic proximity Read ↗

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

Clinical laboratory standard capillary protein electrophoresis alerted of a low C3 state and lead to the identification of a Factor I deficiency due to a novel homozygous mutation.Semantic proximity Read ↗

Molecular characterization of two novel cases of complete complement inhibitor Factor I deficiency.Semantic proximity Read ↗

Molecular characterization of Complement Factor I deficiency in two Spanish families.Semantic proximity Read ↗

Whole Exome Sequencing as a Diagnostic Tool of Primary Complement Component Deficiencies: A Multicenter Experience of Three Novel MutationsSemantic proximity Read ↗

Genetic, molecular and functional analyses of complement factor I deficiencySemantic proximity Read ↗

Novel Mutations Causing C5 Deficiency in Three North-African Families.Semantic proximity Read ↗

Compound heterozygous mutations in the C6 gene of a child with recurrent infections.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.