{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T09:05:11Z","timestamp":1790759111103,"version":"4.1.0"},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2001,6,1]],"date-time":"2001-06-01T00:00:00Z","timestamp":991353600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2001,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We have investigated the molecular basis of selective and complete C1s deficiency in 2-year-old girl with complex autoimmune diseases including lupus-like syndrome, Hashimoto\u2019s thyroiditis, and autoimmune hepatitis. This patient\u2019s complement profile was characterized by the absence of CH50 activity, C1 functional activity &amp;lt;10%, and undetectable levels of C1s Ag associated with normal levels of C1r and C1q Ags. Exon-specific amplification of genomic DNA by PCR followed by direct sequence analysis revealed a homozygous nonsense mutation in the C1s gene exon XII at codon 534, caused by a nucleotide substitution from C (CGA for arginine) to T (TGA for stop codon). Both parents were heterozygous for this mutation. We used the new restriction site for endonuclease Fok-1 created by the mutation to detect this mutation in the genomic DNA of seven healthy family members. Four additional heterozygotes for the mutation were identified in two generations. Our data characterize for the first time the genetic defect of a selective and complete C1s deficiency in a Caucasian patient.<\/jats:p>","DOI":"10.4049\/jimmunol.166.12.7612","type":"journal-article","created":{"date-parts":[[2014,4,20]],"date-time":"2014-04-20T23:36:18Z","timestamp":1398036978000},"page":"7612-7616","source":"Crossref","is-referenced-by-count":58,"title":["Molecular Basis of a Selective C1s Deficiency Associated with Early Onset Multiple Autoimmune Diseases"],"prefix":"10.1093","volume":"166","author":[{"given":"Marie-Agne\u0300s","family":"Dragon-Durey","sequence":"first","affiliation":[{"name":"Service d\u2019Immunologie Biologique, Ho\u0302pital Europe\u0301en Georges Pompidou, AP-HP , Paris ,","place":["France"]},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale, Unite\u0301 430, Immunopathologie Humaine, Ho\u0302pital Broussais , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Quartier","sequence":"additional","affiliation":[{"name":"Unite\u0301 d\u2019Immuno-He\u0301matologie Pe\u0301diatrique, Ho\u0302pital Necker-Enfants Malades, AP-HP , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ve\u0301ronique","family":"Fre\u0301meaux-Bacchi","sequence":"additional","affiliation":[{"name":"Service d\u2019Immunologie Biologique, Ho\u0302pital Europe\u0301en Georges Pompidou, AP-HP , Paris ,","place":["France"]},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale, Unite\u0301 430, Immunopathologie Humaine, Ho\u0302pital Broussais , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Blouin","sequence":"additional","affiliation":[{"name":"Service d\u2019Immunologie Biologique, Ho\u0302pital Europe\u0301en Georges Pompidou, AP-HP , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"de Barace","sequence":"additional","affiliation":[{"name":"Service de Pe\u0301diatrie, Ho\u0302pital de Saint Brieuc , Saint Brieuc ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Marie","family":"Prieur","sequence":"additional","affiliation":[{"name":"Unite\u0301 d\u2019Immuno-He\u0301matologie Pe\u0301diatrique, Ho\u0302pital Necker-Enfants Malades, AP-HP , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Weiss","sequence":"additional","affiliation":[{"name":"Service d\u2019Immunologie Biologique, Ho\u0302pital Europe\u0301en Georges Pompidou, AP-HP , Paris ,","place":["France"]},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale, Unite\u0301 430, Immunopathologie Humaine, Ho\u0302pital Broussais , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolf-Herman","family":"Fridman","sequence":"additional","affiliation":[{"name":"Service d\u2019Immunologie Biologique, Ho\u0302pital Europe\u0301en Georges Pompidou, AP-HP , Paris ,","place":["France"]},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale, Unite\u0301 255, Universite\u0301 Pierre et Marie Curie , les Cordeliers, Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2001,6,15]]},"reference":[{"key":"2025032907404081200_R1","first-page":"2180","volume-title":"J. 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