{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:07:37Z","timestamp":1791900457164,"version":"4.3.4"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2005,7,10]],"date-time":"2005-07-10T00:00:00Z","timestamp":1120953600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2005,8]]},"DOI":"10.1038\/ng1600","type":"journal-article","created":{"date-parts":[[2005,7,10]],"date-time":"2005-07-10T17:46:35Z","timestamp":1121017595000},"page":"820-828","source":"Crossref","is-referenced-by-count":575,"title":["Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans"],"prefix":"10.1038","volume":"37","author":[{"given":"U","family":"Salzer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H M","family":"Chapel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A D B","family":"Webster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Q","family":"Pan-Hammarstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Schmitt-Graeff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Schlesier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H H","family":"Peter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J K","family":"Rockstroh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A A","family":"Sch\u00e4ffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Hammarstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Grimbacher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2005,7,10]]},"reference":[{"key":"BFng1600_CR1","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1016\/S1359-6101(03)00023-6","volume":"14","author":"F Mackay","year":"2003","unstructured":"Mackay, F. & Ambrose, C. The TNF family members BAFF and APRIL: the growing complexity. Cytokine Growth Factor Rev. 14, 311\u2013324 (2003).","journal-title":"Cytokine Growth Factor Rev."},{"key":"BFng1600_CR2","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1146\/annurev.immunol.21.120601.141152","volume":"21","author":"F Mackay","year":"2003","unstructured":"Mackay, F., Schneider, P., Rennert, P. & Browning, J. BAFF AND APRIL: a tutorial on B cell survival. Annu. Rev. Immunol. 21, 231\u2013264 (2003).","journal-title":"Annu. Rev. Immunol."},{"key":"BFng1600_CR3","doi-asserted-by":"publisher","first-page":"807","DOI":"10.4049\/jimmunol.173.2.807","volume":"173","author":"LG Ng","year":"2004","unstructured":"Ng, L.G. et al. B cell-activating factor belonging to the TNF family (BAFF)-R is the principal BAFF receptor facilitating BAFF costimulation of circulating T and B cells. J. Immunol. 173, 807\u2013817 (2004).","journal-title":"J. Immunol."},{"key":"BFng1600_CR4","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1172\/JCI18025","volume":"112","author":"D Avery","year":"2003","unstructured":"Avery, D. et al. BAFF selectively enhances the survival of plasmablasts generated from activated human memory B cells. J. Clin. Invest. 112, 286\u2013297 (2003).","journal-title":"J. Clin. Invest."},{"key":"BFng1600_CR5","doi-asserted-by":"publisher","first-page":"35478","DOI":"10.1074\/jbc.M005224200","volume":"275","author":"Y Wu","year":"2000","unstructured":"Wu, Y. et al. Tumor necrosis factor (TNF) receptor superfamily member TACI is a high affinity receptor for TNF family members APRIL and BlyS 275. J. Biol. Chem. 275, 35478\u201335485 (2000).","journal-title":"J. Biol. Chem."},{"key":"BFng1600_CR6","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1128\/MCB.24.3.997-1006.2004","volume":"24","author":"E Varfolomeev","year":"2004","unstructured":"Varfolomeev, E. et al. APRIL-deficient mice have normal immune system development. Mol. Cell. Biol. 24, 997\u20131006 (2004).","journal-title":"Mol. Cell. Biol."},{"key":"BFng1600_CR7","doi-asserted-by":"publisher","first-page":"3903","DOI":"10.1073\/pnas.0307348101","volume":"101","author":"E Castigli","year":"2004","unstructured":"Castigli, E. et al. Impaired IgA class switching in APRIL-deficient mice. Proc. Natl. Acad. Sci. USA 101, 3903\u20133908 (2004).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng1600_CR8","doi-asserted-by":"publisher","first-page":"822","DOI":"10.1038\/ni829","volume":"3","author":"MB Litinskiy","year":"2002","unstructured":"Litinskiy, M.B. et al. DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL. Nat. Immunol. 3, 822\u2013829 (2002).","journal-title":"Nat. Immunol."},{"key":"BFng1600_CR9","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1084\/jem.20032000","volume":"201","author":"E Castigli","year":"2005","unstructured":"Castigli, E. et al. TACI and BAFF-R mediate isotype switching in B cells. J. Exp. Med. 201, 35\u201339 (2005).","journal-title":"J. Exp. Med."},{"key":"BFng1600_CR10","doi-asserted-by":"publisher","first-page":"2111","DOI":"10.1126\/science.1061964","volume":"293","author":"B Schiemann","year":"2001","unstructured":"Schiemann, B. et al. An essential role for BAFF in the normal development of B cells through a BCMA-independent pathway. Science 293, 2111\u20132114 (2001).","journal-title":"Science"},{"key":"BFng1600_CR11","doi-asserted-by":"publisher","first-page":"2108","DOI":"10.1126\/science.1061965","volume":"293","author":"JS Thompson","year":"2001","unstructured":"Thompson, J.S. et al. BAFF-R a newly identified TNF receptor that specifically interacts with BAFF. Science 293, 2108\u20132111 (2001).","journal-title":"Science"},{"key":"BFng1600_CR12","doi-asserted-by":"publisher","first-page":"2331","DOI":"10.4049\/jimmunol.173.4.2331","volume":"173","author":"S Shulga-Morskaya","year":"2004","unstructured":"Shulga-Morskaya, S. et al. B cell-activating factor belonging to the TNF family acts through separate receptors to support B cell survival and T cell-independent antibody formation. J. Immunol. 173, 2331\u20132341 (2004).","journal-title":"J. Immunol."},{"key":"BFng1600_CR13","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1016\/S1074-7613(01)00130-3","volume":"14","author":"GU von B\u00fclow","year":"2001","unstructured":"von B\u00fclow, G.U., van Deursen, J.M. & Bram, R.J. Regulation of the T-independent humoral response by TACI. Immunity 14, 573\u2013582 (2001).","journal-title":"Immunity"},{"key":"BFng1600_CR14","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1016\/S1074-7613(03)00025-6","volume":"18","author":"D Seshasayee","year":"2003","unstructured":"Seshasayee, D. et al. Loss of TACI causes fatal lymphoproliferation and autoimmunity, establishing TACI as an inhibitory BLyS receptor. Immunity 18, 279\u2013288 (2003).","journal-title":"Immunity"},{"key":"BFng1600_CR15","doi-asserted-by":"publisher","first-page":"638","DOI":"10.1038\/89790","volume":"2","author":"M Yan","year":"2001","unstructured":"Yan, M. et al. Activation and accumulation of B cells in TACI-deficient mice. Nat. Immunol. 2, 638\u2013643 (2001).","journal-title":"Nat. Immunol."},{"key":"BFng1600_CR16","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1006\/clim.1999.4725","volume":"92","author":"C Cunningham-Rundles","year":"1999","unstructured":"Cunningham-Rundles, C. & Bodian, C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin. Immunol. 92, 34\u201348 (1999).","journal-title":"Clin. Immunol."},{"key":"BFng1600_CR17","doi-asserted-by":"publisher","first-page":"4408","DOI":"10.4049\/jimmunol.164.8.4408","volume":"164","author":"I Vo\u0159echovsk\u00fd","year":"2000","unstructured":"Vo\u0159echovsk\u00fd, I., Cullen, M., Carrington, M., Hammarstr\u00f6m, L. & Webster, A.D.B. Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: Identification and characterization of haplotypes shared by affected members of 101 multiple-case families. J. Immunol. 164, 4408\u20134416 (2000).","journal-title":"J. Immunol."},{"key":"BFng1600_CR18","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/S0065-2776(08)60744-0","volume":"65","author":"PD Burrows","year":"1997","unstructured":"Burrows, P.D. & Cooper, M.D. IgA deficiency. Adv. Immunol. 65, 245\u2013276 (1997).","journal-title":"Adv. Immunol."},{"key":"BFng1600_CR19","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1038\/ni902","volume":"4","author":"B Grimbacher","year":"2003","unstructured":"Grimbacher, B. et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat. Immunol. 4, 261\u2013268 (2003).","journal-title":"Nat. Immunol."},{"key":"BFng1600_CR20","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1016\/j.clim.2004.07.002","volume":"113","author":"U Salzer","year":"2004","unstructured":"Salzer, U. et al. ICOS deficiency in patients with common variable immuno-deficiency. Clin. Immunol. 113, 234\u2013240 (2004).","journal-title":"Clin. Immunol."},{"key":"BFng1600_CR21","doi-asserted-by":"publisher","first-page":"7218","DOI":"10.1074\/jbc.M411714200","volume":"280","author":"SG Hymowitz","year":"2004","unstructured":"Hymowitz, S.G. et al. Structures of APRIL-receptor complexes: Like BCMA, TACI employs only a single cysteine-rich domain for high-affinity ligand binding. J. Biol. Chem. 280, 7218\u20137227 (2004).","journal-title":"J. Biol. Chem."},{"key":"BFng1600_CR22","doi-asserted-by":"publisher","first-page":"1681","DOI":"10.1093\/bioinformatics\/18.12.1681","volume":"18","author":"A Riva","year":"2002","unstructured":"Riva, A. & Kohane, I.S. SNPper: retrieval and analysis of human SNPs. Bioinformatics 18, 1681\u20131685 (2002).","journal-title":"Bioinformatics"},{"key":"BFng1600_CR23","doi-asserted-by":"publisher","first-page":"3812","DOI":"10.1093\/nar\/gkg509","volume":"31","author":"PC Ng","year":"2003","unstructured":"Ng, P.C. & Henikoff, S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 31, 3812\u20133814 (2003).","journal-title":"Nucleic Acids Res."},{"key":"BFng1600_CR24","doi-asserted-by":"publisher","first-page":"1375","DOI":"10.1084\/jem.20042309","volume":"201","author":"K Ingold","year":"2005","unstructured":"Ingold, K. et al. Identification of proteoglycans as APRIL-specific binding partners. J. Exp. Med. 201, 1375\u20131383 (2005).","journal-title":"J. Exp. Med."},{"key":"BFng1600_CR25","doi-asserted-by":"publisher","first-page":"1544","DOI":"10.1182\/blood.V99.5.1544","volume":"99","author":"K Warnatz","year":"2002","unstructured":"Warnatz, K. et al. Severe deficiency of switched memory B cells (CD27+IgM\u2212IgD\u2212) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 99, 1544\u20131551 (2002).","journal-title":"Blood"},{"key":"BFng1600_CR26","doi-asserted-by":"publisher","first-page":"2765","DOI":"10.4049\/jimmunol.170.5.2765","volume":"170","author":"J Kralovicova","year":"2003","unstructured":"Kralovicova, J., Hammarstr\u00f6m, L., Plebani, A., Webster, A.D.B. & Vorechovsky, I. Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ\/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency. J. Immunol. 170, 2765\u20132775 (2003).","journal-title":"J. Immunol."},{"key":"BFng1600_CR27","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/S0092-8674(00)80721-7","volume":"97","author":"MF McDermott","year":"1999","unstructured":"McDermott, M.F. et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97, 133\u2013144 (1999).","journal-title":"Cell"},{"key":"BFng1600_CR28","doi-asserted-by":"publisher","first-page":"12614","DOI":"10.1073\/pnas.221456898","volume":"98","author":"S Ferrari","year":"2001","unstructured":"Ferrari, S. et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc. Natl. Acad. Sci. USA 98, 12614\u201312619 (2001).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng1600_CR29","doi-asserted-by":"publisher","first-page":"1347","DOI":"10.1126\/science.7539157","volume":"268","author":"F Rieux-Laucat","year":"1995","unstructured":"Rieux-Laucat, F. et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 268, 1347\u20131349 (1995).","journal-title":"Science"},{"key":"BFng1600_CR30","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1016\/S0022-3476(98)70102-7","volume":"133","author":"AJ Infante","year":"1998","unstructured":"Infante, A.J. et al. The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. J. Pediatr. 133, 629\u2013633 (1998).","journal-title":"J. Pediatr."},{"key":"BFng1600_CR31","doi-asserted-by":"publisher","first-page":"935","DOI":"10.1016\/0092-8674(95)90013-6","volume":"81","author":"GH Fisher","year":"1995","unstructured":"Fisher, G.H. et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 81, 935\u2013946 (1995).","journal-title":"Cell"},{"key":"BFng1600_CR32","doi-asserted-by":"publisher","first-page":"1428","DOI":"10.1128\/MCB.23.4.1428-1440.2003","volume":"23","author":"N Holler","year":"2003","unstructured":"Holler, N. et al. Two adjacent trimeric Fas ligands are required for Fas signaling and formation of a death-inducing signaling complex. Mol. Cell. Biol. 23, 1428\u20131440 (2003).","journal-title":"Mol. Cell. Biol."},{"key":"BFng1600_CR33","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1016\/S0065-3233(04)68007-7","volume":"68","author":"H Wu","year":"2004","unstructured":"Wu, H. Assembly of post-receptor signaling complexes for the tumor necrosis factor receptor superfamily. Adv. Protein Chem. 68, 225\u2013279 (2004).","journal-title":"Adv. Protein Chem."},{"key":"BFng1600_CR34","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1084\/jem.192.1.137","volume":"192","author":"XZ Xia","year":"2000","unstructured":"Xia, X.Z. et al. TACI is a TRAF-interacting receptor for TALL-1, a tumor necrosis factor family member involved in B cell regulation. J. Exp. Med. 192, 137\u2013143 (2000).","journal-title":"J. Exp. Med."},{"key":"BFng1600_CR35","doi-asserted-by":"publisher","first-page":"2354","DOI":"10.1126\/science.288.5475.2354","volume":"288","author":"RM Siegel","year":"2000","unstructured":"Siegel, R.M. et al. Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. Science 288, 2354\u20132357 (2000).","journal-title":"Science"},{"key":"BFng1600_CR36","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1016\/S1074-7613(01)00183-2","volume":"15","author":"JA Gross","year":"2001","unstructured":"Gross, J.A. et al. TACI-Ig neutralizes molecules critical for B cell development and autoimmune disease. Impaired B cell maturation in mice lacking BLyS. Immunity 15, 289\u2013302 (2001).","journal-title":"Immunity"},{"key":"BFng1600_CR37","doi-asserted-by":"publisher","first-page":"3253","DOI":"10.1002\/art.11299","volume":"48","author":"KP Baker","year":"2003","unstructured":"Baker, K.P. et al. Generation and characterization of LymphoStat-B, a human monoclonal antibody that anatgonizes the bioactivities of B Lymphocyte Stimulator. Arthritis Rheum. 48, 3253\u20133265 (2003).","journal-title":"Arthritis Rheum."},{"key":"BFng1600_CR38","doi-asserted-by":"crossref","unstructured":"Hannelius, U. et al. Phenylketonuria screening registry as a resource for population genetic studies. J. Med. Genet. (in the press).","DOI":"10.1136\/jmg.2005.032987"},{"key":"BFng1600_CR39","doi-asserted-by":"publisher","first-page":"2920","DOI":"10.1002\/eji.1830271126","volume":"27","author":"Q Pan","year":"1997","unstructured":"Pan, Q., Lindersson, Y., Sideras, P. & Hammarstr\u00f6m, L. Structural analysis of human \u03b33 intervening regions and switch regions: implication for the low frequency of switching in IgG3-deficient patients. Eur. J. Immunol. 27, 2920\u20132926 (1997).","journal-title":"Eur. J. Immunol."},{"key":"BFng1600_CR40","doi-asserted-by":"publisher","first-page":"3443","DOI":"10.1073\/pnas.81.11.3443","volume":"81","author":"GM Lathrop","year":"1984","unstructured":"Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus analysis in humans. Proc. Natl. Acad. Sci. USA 81, 3443\u20133446 (1984).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng1600_CR41","first-page":"252","volume":"53","author":"RW Cottingham Jr","year":"1993","unstructured":"Cottingham, R.W. Jr ., Idury, R.M. & Sch\u00e4ffer, A.A. Faster sequential genetic linkage computations. Am. J. Hum. Genet. 53, 252\u2013263 (1993).","journal-title":"Am. J. Hum. Genet."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng1600.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1600","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1600.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T22:09:37Z","timestamp":1684447777000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng1600"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,7,10]]},"references-count":41,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2005,8]]}},"alternative-id":["BFng1600"],"URL":"https:\/\/doi.org\/10.1038\/ng1600","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,7,10]]}}}