{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:32:17Z","timestamp":1791117137584,"version":"4.1.0"},"reference-count":44,"publisher":"National Academy of Sciences","issue":"33","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2009,8,18]]},"abstract":"<jats:p>B-cell survival depends on signals induced by B-cell activating factor (BAFF) binding to its receptor (BAFF-R). In mice, mutations in BAFF or BAFF-R cause B-cell lymphopenia and antibody deficiency. Analyzing BAFF-R expression and BAFF-binding to B cells in common variable immunodeficiency (CVID) patients, we identified two siblings carrying a homozygous deletion in the BAFF-R gene. Removing most of the BAFF-R transmembrane part, the deletion precludes BAFF-R expression. Without BAFF-R, B-cell development is arrested at the stage of transitional B cells and the numbers of all subsequent B-cell stages are severely reduced. Both siblings have lower IgG and IgM serum levels but, unlike most CVID patients, normal IgA concentrations. They also did not mount a T-independent immune response against pneumococcal cell wall polysaccharides but only one BAFF-R-deficient sibling developed recurrent infections. Therefore, deletion of the BAFF-R gene in humans causes a characteristic immunological phenotype but it does not necessarily lead to a clinically manifest immunodeficiency.<\/jats:p>","DOI":"10.1073\/pnas.0903543106","type":"journal-article","created":{"date-parts":[[2009,8,6]],"date-time":"2009-08-06T21:44:13Z","timestamp":1249595053000},"page":"13945-13950","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":330,"title":["B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans"],"prefix":"10.1073","volume":"106","author":[{"given":"Klaus","family":"Warnatz","sequence":"first","affiliation":[{"name":"Department of Rheumatology and Clinical Immunology and Center for Chronic Immunodeficiencies, University Medical Center Freiburg, 79106 Freiburg, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Salzer","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Clinical Immunology and Center for Chronic Immunodeficiencies, University Medical Center Freiburg, 79106 Freiburg, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Rizzi","sequence":"additional","affiliation":[{"name":"Clinical Research Unit for Rheumatology, Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, 79106 Freiburg, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beate","family":"Fischer","sequence":"additional","affiliation":[{"name":"Clinical Research Unit for Rheumatology, Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, 79106 Freiburg, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Gutenberger","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Clinical Immunology and Center for Chronic Immunodeficiencies, University Medical Center Freiburg, 79106 Freiburg, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"B\u00f6hm","sequence":"additional","affiliation":[{"name":"Institute of Pathology, University of Freiburg, 79106 Freiburg, Germany; 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