All individuals with variants in gene C3

19 entries on 1 page. Showing entries 1 - 19.
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00334395 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00361799 - Journal: Ghannam 2014 - M no France - - - - - C3D Recurrent pyogenic infections 2 1 Christian Drouet
00361800 - Journal: Kida 2008 - - no Japan - - - - - C3D Meningitis, bronchitis, and pneumonia 2 1 Christian Drouet
00361801 - Journal: Okura 2011 - - - Japan - - - - - C3D Severe and recurrent Streptococcus pneumoniae infections: pneumoniae, acute otitis, gastroenterocolitis 2 1 Christian Drouet
00362255 C3.1.II:1 PubMed: Jimenez-Reinoso 2018, Journal: Jimenez-Reinoso 2018 - - - Spain Pakistan - - - - C3D Proband presenting with purpura and membranoproliferative glomerulonephritis 1 2 Christian Drouet
00362256 - - - F - Sweden - - - - - C3D Proband presenting with a lupus erythematosus (SLE)–like syndrome 1 1 Christian Drouet
00362257 - - - M - Turkey - - - - - C3D Recurrent airway infections caused by S. pneumoniae and bronchiectasis 1 1 Christian Drouet
00362258 - - - M yes Turkey - - - - - C3D Proband presenting with recurrent airway infections caused by S. pneumoniae and bronchiectasis 1 1 Christian Drouet
00398562 FamPatIV3 PubMed: Tsukumura 2005, Journal: Tsukamoto 2005 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Japan - - - - - C3D - 1 1 Christian Drouet
00398563 patient Journal: Alper 1972, PubMed: Botto 1992, Journal: Botto 1992 2-generation family, affected mother, unaffected heterozygous carrier children F yes South Africa - - - - - C3D Female proband presenting with recurrent meningococcal meningitis and pneumonia 1 1 Christian Drouet
00398624 control PubMed: Botto 1992, Journal: Botto 1992 analysis 174 Afrikaans speaking controls - - South Africa - - - - - Healthy/Control - 1 2 Johan den Dunnen
00398633 FamPatII3 PubMed: Ghannam 2008,Journal: Ghannam 2008 2-generation family, affected twin brothers, unaffected carrier parents M no France - - - - - C3D Proband presenting with a C3 deficient phenotype with recurrent pyogenic neonatal and paediatric infections, with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells 1 2 Christian Drouet
00398650 patient PubMed: Botto 1990, 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes United Kingdom (Great Britain) - - - - - C3D Homozygous proband presenting with recurrent attacks of otitis media, one febrile convulsion during the first 3 yr of life and upper respiratory tract infection by a group A beta-hemolytic Streptococcus. 1 1 Christian Drouet
00420782 - PubMed: Mohlin 2018, Journal: Mohlin 2018 - F - (Sweden) - - - - - C3D Proband presenting with recurrent spontaneous pregnancy loss 1 1 Christian Drouet
00421406 - Journal: Mohlin 2018 PubMed: Mohlin 2018 - F - (Sweden) - - - - - C3D Proband suffering from recurrent spontaneous pregnancy loss 1 1 Christian Drouet
00421407 - Journal: Mohlin 2018 PubMed: Mohlin 2018 - - - (Sweden) - - - - - C3D - 1 1 Christian Drouet
00421408 - Journal: Mohlin 2018 PubMed: Mohlin 2018 - - - (Sweden) - - - - - C3D - 1 1 Christian Drouet
00421409 - Journal: Mohlin 2018 PubMed: Mohlin 2018 - F - (Sweden) - - - - - C3D - 1 1 Christian Drouet
00453287 - Journal: Bernacchia 2024 - - no Argentina - - - - - C3D Proband presenting with a history of recurrent infections since early childhood and one of them developed hemolytic uremic syndrome 2 2 Christian Drouet
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