ArticleClinical and experimental immunology2003
Molecular characterization of homozygous hereditary factor I deficiency.
Article in Clinical and experimental immunology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Complete Complement Factor I (CFI) deficiency: a systematic review of forty-nine patients including three novel cases.BMC immunology · 2025Pooled it
- Rapid genome sequencing identifies novel variants in complement factor I.Cold Spring Harbor molecular case studies · 2022Article
- Predicting physiological aging rates from a range of quantitative traits using machine learning.Aging · 2021Article
- Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.Frontiers in immunology · 2019Article
- Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.Journal of clinical immunology · 2017Article
- Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis.Journal of clinical immunology · 2013Article
- 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 · 2012Article
- Molecular basis of complement factor I (CFI) polymorphism: one of two polymorphic suballeles responsible for CFI A is Japanese-specific.Journal of human genetics · 2008Article
- Nonsense-codon-mediated decay in human hereditary complement C3 deficiency.Immunogenetics · 2004Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have studied the molecular basis of factor I (fI) deficiency in two Brazilian sisters from a consanguineous family. By reverse transcription-polymerase chain reaction we observed that all fI cDNA amplified products from one sister had the same size as those of normal cDNA, however, they were significantly less intense. Sequencing analysis of subcloned cDNA revealed a dinucleotide insertion (AT) between positions 1204 and 1205 in the 11th exon that creates a stop codon 13 bp downstream of the insertion site. Genomic DNA sequencing and heteroduplex analysis confirmed that both probands are homozygous for this mutation, whereas their parents are heterozygous. The stop codon and the diminished amounts of fI cDNA could indicate increased fI mRNA instability, perhaps due to a mechanism of nonsense-mediated decay. This hypothesis is consistent with our observation that treatment with the translation inhibitor cycloheximide stabilized fI mRNA expression in proband's fibroblasts.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.