Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
auto immune diseases
complement
deficiency
genetic variants
meningococcal infections
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2019
2019
Historique:
received:
07
05
2019
accepted:
30
07
2019
entrez:
24
8
2019
pubmed:
24
8
2019
medline:
30
9
2020
Statut:
epublish
Résumé
The complement system is crucial for defense against pathogens and the removal of dying cells or immune complexes. Thus, clinical indications for possible complete complement deficiencies include, among others, recurrent mild or serious bacterial infections as well as autoimmune diseases (AID). The diagnostic approach includes functional activity measurements of the classical (CH50) and alternative pathway (AP50) and the determination of the C3 and C4 levels, followed by the quantitative analysis of individual components or regulators. When biochemical analysis reveals the causal abnormality of the complement deficiency (CD), molecular mechanisms remains frequently undetermined. Here, using direct sequencing analysis of the coding region we report the pathogenic variants spectrum that underlie the total or subtotal complement deficiency in 212 patients. We identified 107 different hemizygous, homozygous, or compound heterozygous pathogenic variants in 14 complement genes [
Identifiants
pubmed: 31440263
doi: 10.3389/fimmu.2019.01936
pmc: PMC6694794
doi:
Substances chimiques
Complement System Proteins
9007-36-7
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1936Références
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