{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T14:24:08Z","timestamp":1767968648789,"version":"3.49.0"},"reference-count":95,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2007,6,1]],"date-time":"2007-06-01T00:00:00Z","timestamp":1180656000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,6,1]],"date-time":"2007-06-01T00:00:00Z","timestamp":1180656000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["bmn.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Current Opinion in Genetics &amp; Development"],"published-print":{"date-parts":[[2007,6]]},"DOI":"10.1016\/j.gde.2007.04.002","type":"journal-article","created":{"date-parts":[[2007,4,30]],"date-time":"2007-04-30T10:49:55Z","timestamp":1177930195000},"page":"201-212","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":50,"title":["Deconstructing common variable immunodeficiency by genetic analysis"],"prefix":"10.1016","volume":"17","author":[{"given":"Alejandro A","family":"Sch\u00e4ffer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrich","family":"Salzer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lennart","family":"Hammarstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bodo","family":"Grimbacher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gde.2007.04.002_bib1","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1006\/clim.1999.4725","article-title":"Common variable immunodeficiency: Clinical and immunological features of 248 patients","volume":"92","author":"Cunningham-Rundles","year":"1999","journal-title":"Clin Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib2","doi-asserted-by":"crossref","unstructured":"No authors listed: Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies.Clin Exp Immunol 1999, 118:1\u201328.","DOI":"10.1046\/j.1365-2249.1999.00109.x"},{"key":"10.1016\/j.gde.2007.04.002_bib3","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/BF01958274","article-title":"Development of hypogammaglobulinaemia in a patient with common variable immunodeficiency","volume":"149","author":"Ishizaka","year":"1989","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.gde.2007.04.002_bib4","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1006\/clin.1996.0132","article-title":"Development of a common variable immunodeficiency in IgA-deficient patients","volume":"80","author":"Espa\u00f1ol","year":"1996","journal-title":"Clin Immunol Immunopathol"},{"key":"10.1016\/j.gde.2007.04.002_bib5","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1046\/j.1365-2249.1997.3801278.x","article-title":"Age-related changes in serum immunoglobulins in patients with familial IgA deficiency and common variable immunodeficiency (CVID)","volume":"108","author":"Johnson","year":"1997","journal-title":"Clin Exp Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib6","first-page":"18","article-title":"Evolution of IgA deficiency to IgG subclass deficiency and common variable immunodeficiency","volume":"28","author":"Carvalho Neves Forte","year":"2000","journal-title":"Allergol Immunopathol (Madr)"},{"key":"10.1016\/j.gde.2007.04.002_bib7","first-page":"306","article-title":"Grimbacher B for the ESID Registry Working party: The European internet-based patient and research database for primary immunodeficiencies: results 2004\u20132006","volume":"147","author":"Eades-Perner","year":"2007","journal-title":"Clin Exp Immunol"},{"issue":"4 Suppl","key":"10.1016\/j.gde.2007.04.002_bib8","doi-asserted-by":"crossref","first-page":"S525","DOI":"10.1016\/j.jaci.2006.01.015","article-title":"Use of intravenous immunoglobulin in human disease: a review of evidence by members of the Primary Immunodeficiency Committee of the American Academy of Allergy, Asthma and Immunology","volume":"117","author":"Orange","year":"2006","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib9","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1006\/clim.2001.5140","article-title":"Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment","volume":"102","author":"Ziegner","year":"2002","journal-title":"Clin Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib10","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1073\/pnas.60.3.881","article-title":"A genetic defect in \u201cacquired\u201d agammaglobulinemia","volume":"60","author":"Kamin","year":"1968","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.gde.2007.04.002_bib11","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1006\/clin.1995.1142","article-title":"Family and linkage study of selective IgA deficiency and common variable immunodeficiency","volume":"77","author":"Vo\u0159echovsk\u00fd","year":"1995","journal-title":"Clin Immunol Immunopathol"},{"key":"10.1016\/j.gde.2007.04.002_bib12","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1038\/ng1885","article-title":"A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC","volume":"38","author":"de Bakker","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.gde.2007.04.002_bib13","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nri1761","article-title":"Immune regulation by SLAM family receptors and SAP-related adaptors","volume":"6","author":"Veillette","year":"2006","journal-title":"Nat Rev Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib14_1","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1084\/jem.20042432","article-title":"Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product","volume":"201","author":"Pasquier","year":"2005","journal-title":"J Exp Med"},{"key":"10.1016\/j.gde.2007.04.002_bib15","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1038\/16717","article-title":"ICOS is an inducible T-cell co-stimulator structurally and functionally related to CD28","volume":"397","author":"Hutloff","year":"1999","journal-title":"Nature"},{"key":"10.1016\/j.gde.2007.04.002_bib16_1","doi-asserted-by":"crossref","first-page":"4927","DOI":"10.4049\/jimmunol.177.7.4927","article-title":"ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells","volume":"177","author":"Bossaller","year":"2006","journal-title":"J Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib17_1","doi-asserted-by":"crossref","first-page":"3045","DOI":"10.1182\/blood-2005-07-2955","article-title":"Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency","volume":"107","author":"Warnatz","year":"2006","journal-title":"Blood"},{"key":"10.1016\/j.gde.2007.04.002_bib18_1","doi-asserted-by":"crossref","first-page":"1901","DOI":"10.1056\/NEJMoa051568","article-title":"An antibody-deficiency syndrome due to mutations in the CD19 gene","volume":"354","author":"van Zelm","year":"2006","journal-title":"N Engl J Med"},{"key":"10.1016\/j.gde.2007.04.002_bib19","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.1084\/jem.189.11.1747","article-title":"BAFF, a novel ligand of the tumor necrosis factor family, stimulates B cell growth","volume":"189","author":"Schneider","year":"1999","journal-title":"J Exp Med"},{"key":"10.1016\/j.gde.2007.04.002_bib20","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1084\/jem.20031330","article-title":"BCMA is essential for the survival of long-lived bone marrow plasma cells","volume":"199","author":"O\u2019Connor","year":"2004","journal-title":"J Exp Med"},{"key":"10.1016\/j.gde.2007.04.002_bib21","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1038\/ni829","article-title":"DCs induce CD40-independent immunoglobulin class switching through Blys and APRIL","volume":"3","author":"Litinskiy","year":"2002","journal-title":"Nat Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib22_1","doi-asserted-by":"crossref","first-page":"2961","DOI":"10.1182\/blood-2006-08-041772","article-title":"TACI regulates IgA production by APRIL in collaboration with HSPG","volume":"109","author":"Sakurai","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.gde.2007.04.002_bib23_1","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/eji.200636623","article-title":"TACI attenuates antibody production costimulated by BAFF-R and CD40","volume":"37","author":"Sakurai","year":"2007","journal-title":"Eur J Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib24","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/S1074-7613(01)00130-3","article-title":"Regulation of the T-independent humoral response by TACI","volume":"14","author":"von B\u00fclow","year":"2001","journal-title":"Immunity"},{"key":"10.1016\/j.gde.2007.04.002_bib25","unstructured":"Pan-Hammarstrom Q, Salzer U, Du L, Bj\u00f6rkander J, Cunningham-Rundles C, Nelson DL, Bacchelli C, Gaspar B, Offer S, Behrens TW et al.: Role of mutations inTNFRSF13Bin CVID and selective IgA deficiency.Nat Genet 2007, in press."},{"key":"10.1016\/j.gde.2007.04.002_bib26","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1016\/0092-8674(95)90013-6","article-title":"Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome","volume":"81","author":"Fisher","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.gde.2007.04.002_bib27","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0092-8674(00)80721-7","article-title":"Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes","volume":"97","author":"McDermott","year":"1999","journal-title":"Cell"},{"key":"10.1016\/j.gde.2007.04.002_bib28","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1086\/302333","article-title":"Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance","volume":"64","author":"Jackson","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.gde.2007.04.002_bib29","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.clim.2004.07.002","article-title":"ICOS deficiency in patients with common variable immunodeficiency","volume":"113","author":"Salzer","year":"2004","journal-title":"Clin Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib30","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1007\/s10875-006-9026-2","article-title":"Mutational analysis of human BLyS in patients with common variable immunodeficiency","volume":"26","author":"Losi","year":"2006","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib31","doi-asserted-by":"crossref","first-page":"8015","DOI":"10.1073\/pnas.86.20.8015","article-title":"Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes","volume":"86","author":"Schaffer","year":"1989","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.gde.2007.04.002_bib32","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/347289a0","article-title":"Different amino acids at position 57 of the HLA-DQ beta chain associated with susceptibility and resistance to IgA deficiency","volume":"347","author":"Olerup","year":"1990","journal-title":"Nature"},{"key":"10.1016\/j.gde.2007.04.002_bib33","doi-asserted-by":"crossref","first-page":"10653","DOI":"10.1073\/pnas.89.22.10653","article-title":"Shared HLA class II-associated genetic susceptibility and resistance, related to the HLA-DQB1 gene, in IgA deficiency and common variable immunodeficiency","volume":"89","author":"Olerup","year":"1992","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.gde.2007.04.002_bib34","doi-asserted-by":"crossref","first-page":"1914","DOI":"10.1172\/JCI115797","article-title":"Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency","volume":"89","author":"Volanakis","year":"1992","journal-title":"J Clin Invest"},{"key":"10.1016\/j.gde.2007.04.002_bib35","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1046\/j.1365-2249.1998.00461.x","article-title":"Evaluation of IgA deficiency in Sardinians indicates a susceptibility gene is encoded within the HLA class III region","volume":"111","author":"Cucca","year":"1998","journal-title":"Clin Exp Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib36","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1007\/BF03401731","article-title":"Susceptibility locus for IgA deficiency and common variable immunodeficiency in the HLA-DR3, -B8, -A1 haplotypes","volume":"4","author":"Schroeder","year":"1998","journal-title":"Mol Med"},{"key":"10.1016\/j.gde.2007.04.002_bib37","doi-asserted-by":"crossref","first-page":"1096","DOI":"10.1086\/302326","article-title":"Genetic linkage of IgA deficiency to the major histocompatibility complex: Evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition","volume":"64","author":"Vo\u0159echovsk\u00fd","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.gde.2007.04.002_bib38","doi-asserted-by":"crossref","first-page":"4637","DOI":"10.4049\/jimmunol.169.8.4637","article-title":"MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes","volume":"169","author":"De la Concha","year":"2002","journal-title":"J Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib39","doi-asserted-by":"crossref","first-page":"4408","DOI":"10.4049\/jimmunol.164.8.4408","article-title":"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","volume":"164","author":"Vo\u0159echovsk\u00fd","year":"2000","journal-title":"J Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib40_1","doi-asserted-by":"crossref","first-page":"2765","DOI":"10.4049\/jimmunol.170.5.2765","article-title":"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","volume":"170","author":"Kralovicova","year":"2003","journal-title":"J Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib41","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.1182\/blood.V99.5.1544","article-title":"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","volume":"99","author":"Warnatz","year":"2002","journal-title":"Blood"},{"key":"10.1016\/j.gde.2007.04.002_bib42","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1023\/A:1025373601374","article-title":"Common variable immunodeficiency patient classification based on impaired B cell memory differentiation correlates with clinical aspects","volume":"23","author":"Piqueras","year":"2003","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib43","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.clim.2005.03.019","article-title":"Immune competence and switched memory B cells in common variable immunodeficiency","volume":"116","author":"Ko","year":"2005","journal-title":"Clin Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib44","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.clim.2006.05.003","article-title":"Memory switched B cell percentage and not serum immunoglobulin concentration is associated with clinical complications in children and adults with specific antibody deficiency and common variable immunodeficiency","volume":"120","author":"Alachkar","year":"2006","journal-title":"Clin Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib45","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1016\/j.jaci.2004.10.048","article-title":"The loss of IgM memory B cells correlates with clinical disease in common variable immunodeficiency","volume":"115","author":"Carsetti","year":"2005","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib46","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1016\/S0140-6736(74)91940-0","article-title":"Role of suppressor T cells in pathogenesis of common variable hypogammaglobulinemia","volume":"2","author":"Waldmann","year":"1974","journal-title":"Lancet"},{"key":"10.1016\/j.gde.2007.04.002_bib47_1","doi-asserted-by":"crossref","first-page":"2441","DOI":"10.1182\/blood-2004-04-1325","article-title":"Common variable immunodeficiency is associated with defective functions of dendritic cells","volume":"15","author":"Bayry","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.gde.2007.04.002_bib48","doi-asserted-by":"crossref","first-page":"R1052","DOI":"10.1186\/ar1774","article-title":"Altered dendritic cell distribution in patients with common variable immunodeficiency","volume":"7","author":"Viallard","year":"2005","journal-title":"Arthritis Res Ther"},{"key":"10.1016\/j.gde.2007.04.002_bib49","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.clim.2004.12.007","article-title":"Deficient IL-12 and dendritic cell function in common variable immunde deficiency","volume":"115","author":"Cunningham-Rundles","year":"2005","journal-title":"Clin Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib50","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/S1074-7613(03)00208-5","article-title":"Plasmacytoid dendritic cells induce plasma cell differentiatiation through type I interferon and interleukin 6","volume":"19","author":"Jego","year":"2003","journal-title":"Immunity"},{"key":"10.1016\/j.gde.2007.04.002_bib51","doi-asserted-by":"crossref","first-page":"13135","DOI":"10.1073\/pnas.95.22.13135","article-title":"Defect in IgV gene somatic hypermutation in Common Variable Immuno-Deficienciency syndrome","volume":"95","author":"Levy","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.gde.2007.04.002_bib52","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1007\/s10875-005-5034-x","article-title":"Deficiency of somatic hypermutation of immunoglobulin G transcripts is a better predictor of severe respiratory tract infections than lack of memory B cells in common variable immunodeficiency","volume":"25","author":"Schejbel","year":"2005","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib53","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1182\/blood-2003-12-4359","article-title":"Deficiency of somatic hypermutation of the antibody light chain is associated with increased frequency of severe respiratory tract infection in common variable immunodeficiency","volume":"105","author":"Andersen","year":"2005","journal-title":"Blood"},{"key":"10.1016\/j.gde.2007.04.002_bib54","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.it.2006.05.001","article-title":"DNA repair in antibody somatic hypermutation","volume":"27","author":"Casali","year":"2006","journal-title":"Trends Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib55","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1093\/bmb\/ldl006","article-title":"Primary immunodeficiency syndromes associated with defective DNA double-strand break repair","volume":"77\u201378","author":"Gennery","year":"2006","journal-title":"Br Med Bull"},{"key":"10.1016\/j.gde.2007.04.002_bib56","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1126\/science.8128251","article-title":"Mutation of a mutL homolog in hereditary colon cancer","volume":"263","author":"Papadopoulos","year":"1994","journal-title":"Science"},{"key":"10.1016\/j.gde.2007.04.002_bib57","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1126\/science.7545954","article-title":"A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1","volume":"266","author":"Miki","year":"1994","journal-title":"Science"},{"key":"10.1016\/j.gde.2007.04.002_bib58","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1126\/science.286.5439.531","article-title":"Molecular classification of cancer: class discovery and class prediction by gene expression monitoring","volume":"286","author":"Golub","year":"1999","journal-title":"Science"},{"key":"10.1016\/j.gde.2007.04.002_bib59","doi-asserted-by":"crossref","first-page":"2431","DOI":"10.1056\/NEJMoa055759","article-title":"Staudt LM for the lymphoma\/leukemia molecular profiling project: molecular diagnosis of Burkitt's lymphoma","volume":"354","author":"Dave","year":"2006","journal-title":"N Engl J Med"},{"key":"10.1016\/j.gde.2007.04.002_bib60","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1186\/1471-2105-6-168","article-title":"High-throughput GoMiner, an \u2018industrial-strength\u2019 integrative gene ontology tool for interpretation of multiple-microarray experiments, with application to studies of Common Variable Immune Deficiency (CVID)","volume":"6","author":"Zeeberg","year":"2005","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.gde.2007.04.002_bib61_1","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1038\/ng1600","article-title":"Mutations in TNFRSF13B, which encodes TACI, are associated with common variable immunodeficiency in humans","volume":"37","author":"Salzer","year":"2005","journal-title":"Nat Genet"},{"key":"10.1016\/j.gde.2007.04.002_bib62","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1038\/nature01621","article-title":"Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease","volume":"423","author":"Ueda","year":"2003","journal-title":"Nature"},{"key":"10.1016\/j.gde.2007.04.002_bib63_1","doi-asserted-by":"crossref","first-page":"2061","DOI":"10.4049\/jimmunol.175.4.2061","article-title":"Cutting edge: polymorphisms in the ICOS promoter region are associated with allergic sensitization and Th2 cytokine production","volume":"175","author":"Shilling","year":"2005","journal-title":"J Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib64","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/35051107","article-title":"ICOS is critical for CD40-mediated antibody class switching","volume":"409","author":"McAdam","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.gde.2007.04.002_bib65_1","doi-asserted-by":"crossref","first-page":"2002","DOI":"10.1161\/CIRCULATIONAHA.105.579326","article-title":"Search on chromosome 17 centromere reveals TNFRSF13B as a susceptibility gene for intracranial aneurysm: A preliminary study","volume":"113","author":"Inoue","year":"2006","journal-title":"Circulation"},{"key":"10.1016\/j.gde.2007.04.002_bib66","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1055\/s-2006-933312","article-title":"Do common infections cause stroke?","volume":"26","author":"Elkind","year":"2006","journal-title":"Semin Neurol"},{"key":"10.1016\/j.gde.2007.04.002_bib67_1","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/S0300-2977(01)00151-6","article-title":"Common variable immunodeficiency (CVID) in a family: an autosomal dominant mode of inheritance","volume":"59","author":"Nijenhuis","year":"2001","journal-title":"Neth J Med"},{"key":"10.1016\/j.gde.2007.04.002_bib68","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/0092-8674(93)90667-F","article-title":"Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia","volume":"72","author":"Tsukada","year":"1993","journal-title":"Cell"},{"key":"10.1016\/j.gde.2007.04.002_bib69","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1038\/361226a0","article-title":"The gene involved in X-linked aggamaglobulinemia is a member of the src family of protein-tyrosine kinases","volume":"361","author":"Vetrie","year":"1993","journal-title":"Nature"},{"key":"10.1016\/j.gde.2007.04.002_bib70","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1056\/NEJM199405263302104","article-title":"A point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia","volume":"330","author":"Saffran","year":"1994","journal-title":"N Engl J Med"},{"key":"10.1016\/j.gde.2007.04.002_bib71","doi-asserted-by":"crossref","first-page":"1486","DOI":"10.1056\/NEJM199611143352003","article-title":"Mutations in the mu heavy-chain gene in patients with agammaglobulinemia","volume":"335","author":"Yel","year":"1996","journal-title":"N Engl J Med"},{"key":"10.1016\/j.gde.2007.04.002_bib72","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1172\/JCI13051","article-title":"Immunoglobulin heavy chain expression shapes the B cell receptor repertorie in human B cell development","volume":"108","author":"Meffre","year":"2001","journal-title":"J Clin Invest"},{"key":"10.1016\/j.gde.2007.04.002_bib73","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1172\/JCI0215658","article-title":"Clinical and molecular characterization of patients with defects in \u03bc heavy chain gene","volume":"110","author":"Lopez Granados","year":"2002","journal-title":"J Clin Invest"},{"key":"10.1016\/j.gde.2007.04.002_bib74","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1172\/JCI7696","article-title":"Mutations in Ig\u03b1 (CD79a) result in a complete block in B-cell development","volume":"104","author":"Minegishi","year":"1999","journal-title":"J Clin Invest"},{"key":"10.1016\/j.gde.2007.04.002_bib75","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1084\/jem.187.1.71","article-title":"Mutations in the human \u03bb5\/14.1 gene result in B cell deficiency and agammaglobulinemia","volume":"187","author":"Minegishi","year":"1998","journal-title":"J Exp Med"},{"key":"10.1016\/j.gde.2007.04.002_bib76","doi-asserted-by":"crossref","first-page":"1954","DOI":"10.1126\/science.286.5446.1954","article-title":"An essential role for BLNK in human B cell development","volume":"286","author":"Minegishi","year":"1999","journal-title":"Science"},{"key":"10.1016\/j.gde.2007.04.002_bib77","doi-asserted-by":"crossref","first-page":"1707","DOI":"10.1172\/JCI18937","article-title":"A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans","volume":"112","author":"Sawada","year":"2003","journal-title":"J Clin Invest"},{"key":"10.1016\/j.gde.2007.04.002_bib78","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1126\/science.7679801","article-title":"CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome","volume":"259","author":"Allen","year":"1993","journal-title":"Science"},{"key":"10.1016\/j.gde.2007.04.002_bib79","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/0092-8674(93)90668-G","article-title":"The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome","volume":"72","author":"Aruffo","year":"1993","journal-title":"Cell"},{"key":"10.1016\/j.gde.2007.04.002_bib80","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/S0092-8674(00)00079-9","article-title":"Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)","volume":"102","author":"Revy","year":"2000","journal-title":"Cell"},{"key":"10.1016\/j.gde.2007.04.002_bib81","doi-asserted-by":"crossref","first-page":"12614","DOI":"10.1073\/pnas.221456898","article-title":"Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM","volume":"98","author":"Ferrari","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.gde.2007.04.002_bib82","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1038\/ni974","article-title":"Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination","volume":"4","author":"Imai","year":"2003","journal-title":"Nat Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib83","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.clim.2005.02.003","article-title":"Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2","volume":"115","author":"Imai","year":"2005","journal-title":"Clin Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib84","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1182\/blood.V98.5.1321","article-title":"Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome","volume":"98","author":"Morra","year":"2001","journal-title":"Blood"},{"key":"10.1016\/j.gde.2007.04.002_bib85","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1046\/j.1365-2249.2001.01599.x","article-title":"X-linked lymphoproliferative disease: three atypical cases","volume":"126","author":"Nistala","year":"2001","journal-title":"Clin Exp Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib86_1","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1038\/nature05257","article-title":"XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome","volume":"442","author":"Rigaud","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.gde.2007.04.002_bib87","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1097\/01.GIM.0000105752.80592.A3","article-title":"Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review","volume":"6","author":"Kalman","year":"2004","journal-title":"Genet Med"},{"key":"10.1016\/j.gde.2007.04.002_bib88","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/ng1149","article-title":"Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease","volume":"34","author":"Hernandez","year":"2003","journal-title":"Nat Genet"},{"key":"10.1016\/j.gde.2007.04.002_bib89","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1034\/j.1600-065X.2000.17815.x","article-title":"Molecular basis of IgG subclass deficiency","volume":"178","author":"Pan","year":"2000","journal-title":"Immunol Rev"},{"key":"10.1016\/j.gde.2007.04.002_bib90_1","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1038\/ni902","article-title":"Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency","volume":"4","author":"Grimbacher","year":"2003","journal-title":"Nat Immunol"},{"key":"10.1016\/j.gde.2007.04.002_bib91","unstructured":"Warnatz K, Salzer U, Gutenberger S, Taubenheim N, Theil K, Schlesier M, Grimbacher B, Eibel H, Peter HH: Finally found: human BAFF-R deficiency causes CVID. In: XIth Meeting of the European Society for Immunodeficiencies 21\u201324 October 2004; Versailles [Abstract #B. 72]."},{"key":"10.1016\/j.gde.2007.04.002_bib92_1","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1038\/ng1601","article-title":"TACI is mutant in common variable immunodeficiency and IgA deficiency","volume":"37","author":"Castigli","year":"2005","journal-title":"Nat Genet"},{"key":"10.1016\/j.gde.2007.04.002_bib93","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1007\/s00439-002-0890-4","article-title":"Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity","volume":"112","author":"Braig","year":"2003","journal-title":"Hum Genet"},{"key":"10.1016\/j.gde.2007.04.002_bib94","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1007\/s00439-005-0101-1","article-title":"Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q","volume":"118","author":"Sch\u00e4ffer","year":"2006","journal-title":"Hum Genet"},{"key":"10.1016\/j.gde.2007.04.002_bib95_1","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1038\/sj.ejhg.5201634","article-title":"Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q","volume":"14","author":"Finck","year":"2006","journal-title":"Eur J Hum Genet"}],"container-title":["Current Opinion in Genetics &amp; Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0959437X07000676?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0959437X07000676?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T11:33:29Z","timestamp":1760700809000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0959437X07000676"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6]]},"references-count":95,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2007,6]]}},"alternative-id":["S0959437X07000676"],"URL":"https:\/\/doi.org\/10.1016\/j.gde.2007.04.002","relation":{},"ISSN":["0959-437X"],"issn-type":[{"value":"0959-437X","type":"print"}],"subject":[],"published":{"date-parts":[[2007,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Deconstructing common variable immunodeficiency by genetic analysis","name":"articletitle","label":"Article Title"},{"value":"Current Opinion in Genetics & Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gde.2007.04.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}