Identification of a Novel Mutation in the Complement Factor 3 Gene in a Patient With Recurrent Pneumococcal Pneumonia

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dc.contributor.authorSantos-Valente, Elisangela
dc.contributor.authorReisli, İsmail
dc.contributor.authorArtaç, Hasibe
dc.contributor.authorOtt, Raphael
dc.contributor.authorSanal, Özden
dc.contributor.authorBoztug, Kaan
dc.date.accessioned2020-03-26T18:30:41Z
dc.date.available2020-03-26T18:30:41Z
dc.date.issued2012
dc.departmentSelçuk Üniversitesien_US
dc.description15th Biennial Meeting European-Society-for-Immunodeficiency (ESID) -- OCT 03-06, 2012 -- Florence, ITALYen_US
dc.description.abstractPurpose Immunological and molecular evaluation of a pa tient presenting with recurrent infections caused by Strepto coccus pneumoniae and low complement component 3 (C3) levels. Methods Immunological evaluation included complement components and immunoglobulin level quantification as well as number and function of T cells, B cells and neutro phils. Serotype-specific immunoglobulin G antibodies against S. pneumoniae capsular polysaccharides were quan tified by ELISA in serum samples before and after vaccina tion with unconjugated polysaccharide vaccine. For the molecular analysis, genomic DNA from the patient and parents were isolated and all exons as well as exon-intron boundaries of the C3 gene were sequenced by Sanger sequencing. Results A 16-year-old male, born to consanguineous parents, presented with recurrent episodes of pneumonia caused by S. pneumoniae and bronchiectasis. The patient showed severely reduced C3 and immunoglobulin A levels, while the parents showed moderately reduced levels of C3. Mutational analysis revealed a novel, homozygous missense mutation in the C3 gene (c. C4554G, p. Cys1518Trp), substituting a highly conserved amino acid in the C345C domain of C3 and interrupting one of its disulfide bonds. Both parents were found to be carriers of the affected allele. Vaccination against S. pneumoniae resulted in considerable clinical improvement.en_US
dc.description.sponsorshipEuropean Soc Immunodeficiency (ESID), Int Nursing Grp Immunodeficiencies (INGID), Int Patient Org Primary Immunodeficiencies (IPOPI)en_US
dc.identifier.citationReisli, I., Artaç, H., Ott, R., Sanal, O., Boztug, K., (2012). Identification of a Novel Mutation in the Complement Factor 3 Gene in a Patient With Recurrent Pneumococcal Pneumonia. Journal of Clinical Immunology, (33), 89-90. Doi: 10.1007/s10875-012-9775-z
dc.identifier.endpage90en_US
dc.identifier.issn0271-9142en_US
dc.identifier.startpage89en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/28122
dc.identifier.volume33en_US
dc.identifier.wosWOS:000308728900171en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.institutionauthorArtaç, Hasibe
dc.language.isoenen_US
dc.publisherSpringer/plenum Publishersen_US
dc.relation.ispartofJournal of Clinical Immunologyen_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.titleIdentification of a Novel Mutation in the Complement Factor 3 Gene in a Patient With Recurrent Pneumococcal Pneumoniaen_US
dc.typeConference Objecten_US

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