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Hot-spot mutations were found in 48% (median; reference interval, 28%-62%) of transcripts from 53 healthy controls. Values were significantly lower in 31 patients (median, 7.5%; range, 0%-73%; P &amp;lt; .0000001) of whom 24 (77%) had levels below the reference interval. Low levels of SHM correlated with increased frequency of severe respiratory tract infection (SRTI; P &amp;lt; .005), but not with diarrhea (P = .8). Mannose-binding lectin (MBL) deficiency also correlated with SRTI score (P = .009). However, the correlation of SHM and SRTI was also seen when only patients with normal MBL genotypes were analyzed (n = 18, P = .006). A slight decline of mutated fractions over years was noted (P = .01). This suggests that most patients with CVID fail to recruit affinity-maturated B cells, adding a qualitative deficiency to the quantitative deficiency characterizing these patients.<\/jats:p>","DOI":"10.1182\/blood-2003-12-4359","type":"journal-article","created":{"date-parts":[[2004,9,15]],"date-time":"2004-09-15T03:44:56Z","timestamp":1095219896000},"page":"511-517","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":67,"title":["Deficiency of somatic hypermutation of the antibody light chain is associated with increased frequency of severe respiratory tract infection in common variable immunodeficiency"],"prefix":"10.1182","volume":"105","author":[{"given":"Pernille","family":"Andersen","sequence":"first","affiliation":[{"name":"From the Departments of Clinical Immunology and Infectious Diseases, University Hospital, Copenhagen, Denmark; Department of Internal Medicine, Bispebjerg Hospital, Copenhagen, Denmark; Department of Medicine TA and Institute for Inflammation Research, University Hospital, Copenhagen, Denmark; and Department of Clinical Immunology, Odense University Hospital, Odense, Denmark."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henrik","family":"Permin","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Immunology and Infectious Diseases, University Hospital, Copenhagen, Denmark; Department of Internal Medicine, Bispebjerg Hospital, Copenhagen, Denmark; Department of Medicine TA and Institute for Inflammation Research, University Hospital, Copenhagen, Denmark; and Department of Clinical Immunology, Odense University Hospital, Odense, Denmark."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vagn","family":"Andersen","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Immunology and Infectious Diseases, University Hospital, Copenhagen, Denmark; Department of Internal Medicine, Bispebjerg Hospital, Copenhagen, Denmark; Department of Medicine TA and Institute for Inflammation Research, University Hospital, Copenhagen, Denmark; and Department of Clinical Immunology, Odense University Hospital, Odense, Denmark."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lone","family":"Schejbel","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Immunology and Infectious Diseases, University Hospital, Copenhagen, Denmark; Department of Internal Medicine, Bispebjerg Hospital, Copenhagen, Denmark; Department of Medicine TA and Institute for Inflammation Research, University Hospital, Copenhagen, Denmark; and Department of Clinical Immunology, Odense University Hospital, Odense, Denmark."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Garred","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Immunology and Infectious Diseases, University Hospital, Copenhagen, Denmark; Department of Internal Medicine, Bispebjerg Hospital, Copenhagen, Denmark; Department of Medicine TA and Institute for Inflammation Research, University Hospital, Copenhagen, Denmark; and Department of Clinical Immunology, Odense University Hospital, Odense, Denmark."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arne","family":"Svejgaard","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Immunology and Infectious Diseases, University Hospital, Copenhagen, Denmark; Department of Internal Medicine, Bispebjerg Hospital, Copenhagen, Denmark; Department of Medicine TA and Institute for Inflammation Research, University Hospital, Copenhagen, Denmark; and Department of Clinical Immunology, Odense University Hospital, Odense, Denmark."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Torben","family":"Barington","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Immunology and Infectious Diseases, University Hospital, Copenhagen, Denmark; Department of Internal Medicine, Bispebjerg Hospital, Copenhagen, Denmark; Department of Medicine TA and Institute for Inflammation Research, University Hospital, Copenhagen, Denmark; and Department of Clinical Immunology, Odense University Hospital, Odense, Denmark."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"234","reference":[{"key":"2020021300214091000_REF1","doi-asserted-by":"crossref","unstructured":"Primary immunodeficiency disease. 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