{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T03:31:24Z","timestamp":1792467084358,"version":"4.5.0"},"reference-count":69,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2016,3,3]],"date-time":"2016-03-03T00:00:00Z","timestamp":1456963200000},"content-version":"vor","delay-in-days":184,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000092","name":"U.S. National Library of Medicine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000092","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1075666"],"award-info":[{"award-number":["1075666"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1054925"],"award-info":[{"award-number":["1054925"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001511","name":"Auckland Medical Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001511","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["01EO1303"],"award-info":[{"award-number":["01EO1303"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["01ZX1306"],"award-info":[{"award-number":["01ZX1306"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2015,9]]},"DOI":"10.1016\/j.ajhg.2015.07.008","type":"journal-article","created":{"date-parts":[[2015,8,13]],"date-time":"2015-08-13T14:23:21Z","timestamp":1439475801000},"page":"389-403","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":238,"title":["Haploinsufficiency of the NF-\u03baB1 Subunit p50 in Common Variable Immunodeficiency"],"prefix":"10.1016","volume":"97","author":[{"given":"Manfred","family":"Fliegauf","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"L. Bryant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Frede","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Slade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"See-Tarn","family":"Woon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Lehnert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Winzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alla","family":"Bulashevska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Scerri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Euphemia","family":"Leung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Jordan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baerbel","family":"Keller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"de\u00a0Vries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongzhi","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro\u00a0A.","family":"Sch\u00e4ffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Warnatz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Browett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo","family":"Douglass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohan\u00a0V.","family":"Ameratunga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00a0W.M.","family":"van\u00a0der\u00a0Meer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bodo","family":"Grimbacher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2015.07.008_bib1","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1182\/asheducation.V2012.1.301.3798316","article-title":"The many faces of common variable immunodeficiency","volume":"2012","author":"Cunningham-Rundles","year":"2012","journal-title":"Hematology (Am Soc Hematol Educ Program)"},{"key":"10.1016\/j.ajhg.2015.07.008_bib2","doi-asserted-by":"crossref","first-page":"415","DOI":"10.3389\/fimmu.2014.00415","article-title":"Comparison of diagnostic criteria for common variable immunodeficiency disorder","volume":"5","author":"Ameratunga","year":"2014","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib3","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/B978-0-12-385991-4.00002-7","article-title":"\u201cA rose is a rose is a rose,\u201d but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011?","volume":"111","author":"Yong","year":"2011","journal-title":"Adv. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib4","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1046\/j.1365-2249.2000.01131.x","article-title":"Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID)","volume":"120","author":"Hammarstr\u00f6m","year":"2000","journal-title":"Clin. Exp. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib5","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.ajhg.2015.07.008_bib6","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":"Vorechovsk\u00fd","year":"1995","journal-title":"Clin. Immunol. Immunopathol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib7","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1159\/000135694","article-title":"Progression of selective IgA deficiency to common variable immunodeficiency","volume":"147","author":"Aghamohammadi","year":"2008","journal-title":"Int. Arch. Allergy Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib8","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.ajhg.2015.07.008_bib9","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.ajhg.2015.07.008_bib10","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1111\/cei.12178","article-title":"New diagnostic criteria for common variable immune deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous immunoglobulin","volume":"174","author":"Ameratunga","year":"2013","journal-title":"Clin. Exp. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib11","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1007\/s00431-011-1474-x","article-title":"Educational paper: primary antibody deficiencies","volume":"170","author":"Driessen","year":"2011","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ajhg.2015.07.008_bib12","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(-)IgD(-)) 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.ajhg.2015.07.008_bib13","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1111\/j.1365-2249.2009.03913.x","article-title":"Decrease in phenotypic regulatory T\u00a0cells in subsets of patients with common variable immunodeficiency","volume":"156","author":"Horn","year":"2009","journal-title":"Clin. Exp. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib14","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1111\/j.1365-2249.2006.03314.x","article-title":"Low numbers of regulatory T\u00a0cells in common variable immunodeficiency: association with chronic inflammation in\u00a0vivo","volume":"147","author":"Fevang","year":"2007","journal-title":"Clin. Exp. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib15","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1038\/nm.3746","article-title":"Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations","volume":"20","author":"Schubert","year":"2014","journal-title":"Nat. Med."},{"key":"10.1016\/j.ajhg.2015.07.008_bib16","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.jaci.2013.12.1077","article-title":"Clinical picture and treatment of 2212 patients with common variable immunodeficiency","volume":"134","author":"Gathmann","year":"2014","journal-title":"J.\u00a0Allergy Clin. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib17","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1111\/j.1749-6632.2011.06377.x","article-title":"Common variable immunodeficiency (CVID): exploring the multiple dimensions of a heterogeneous disease","volume":"1250","author":"Salzer","year":"2012","journal-title":"Ann. N Y Acad. Sci."},{"key":"10.1016\/j.ajhg.2015.07.008_bib18","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/nrm2083","article-title":"Integrating cell-signalling pathways with NF-kappaB and IKK function","volume":"8","author":"Perkins","year":"2007","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib19","doi-asserted-by":"crossref","first-page":"6831","DOI":"10.1038\/sj.onc.1209939","article-title":"Mutations in the NF-kappaB signaling pathway: implications for human disease","volume":"25","author":"Courtois","year":"2006","journal-title":"Oncogene"},{"key":"10.1016\/j.ajhg.2015.07.008_bib20","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1111\/j.0105-2896.2005.00221.x","article-title":"Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation","volume":"203","author":"Orange","year":"2005","journal-title":"Immunol. Rev."},{"key":"10.1016\/j.ajhg.2015.07.008_bib21","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/cr.2011.13","article-title":"NF-\u03baB in immunobiology","volume":"21","author":"Hayden","year":"2011","journal-title":"Cell Res."},{"key":"10.1016\/j.ajhg.2015.07.008_bib22","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/S0161-5890(99)00031-0","article-title":"An intact NF-kappa B signaling pathway is required for maintenance of mature B cell subsets","volume":"36","author":"Bendall","year":"1999","journal-title":"Mol. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib23","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1034\/j.1600-065X.2000.00615.x","article-title":"Rel\/NF-kappaB transcription factors: key mediators of B-cell activation","volume":"176","author":"Gugasyan","year":"2000","journal-title":"Immunol. Rev."},{"key":"10.1016\/j.ajhg.2015.07.008_bib24","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1016\/j.biocel.2007.05.004","article-title":"Nuclear factor-kappaB1: regulation and function","volume":"40","author":"Pereira","year":"2008","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib25","doi-asserted-by":"crossref","first-page":"2083","DOI":"10.1007\/s00018-013-1545-4","article-title":"NF-\u03baB pathways in hematological malignancies","volume":"71","author":"Gasparini","year":"2014","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.ajhg.2015.07.008_bib26","doi-asserted-by":"crossref","first-page":"a000141","DOI":"10.1101\/cshperspect.a000141","article-title":"NF-kappaB as a critical link between inflammation and cancer","volume":"1","author":"Karin","year":"2009","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib27","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1007\/s10875-013-9924-z","article-title":"Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation","volume":"33","author":"Yoshioka","year":"2013","journal-title":"J.\u00a0Clin. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib28","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1172\/JCI18714","article-title":"A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T\u00a0cell immunodeficiency","volume":"112","author":"Courtois","year":"2003","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.ajhg.2015.07.008_bib29","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.jaci.2013.12.1093","article-title":"Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKK\u03b2","volume":"134","author":"Burns","year":"2014","journal-title":"J.\u00a0Allergy Clin. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib30","doi-asserted-by":"crossref","first-page":"2046","DOI":"10.1182\/blood-2014-04-571265","article-title":"A nonsense mutation in IKBKB causes combined immunodeficiency","volume":"124","author":"Mousallem","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.ajhg.2015.07.008_bib31","doi-asserted-by":"crossref","first-page":"2504","DOI":"10.1056\/NEJMoa1309199","article-title":"Deficiency of innate and acquired immunity caused by an IKBKB mutation","volume":"369","author":"Pannicke","year":"2013","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2015.07.008_bib32","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/85837","article-title":"X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling","volume":"27","author":"D\u00f6ffinger","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2015.07.008_bib33","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/85277","article-title":"Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia","volume":"2","author":"Jain","year":"2001","journal-title":"Nat. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib34","doi-asserted-by":"crossref","first-page":"1727","DOI":"10.1056\/NEJMoa0810719","article-title":"A homozygous CARD9 mutation in a family with susceptibility to fungal infections","volume":"361","author":"Glocker","year":"2009","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2015.07.008_bib35","doi-asserted-by":"crossref","DOI":"10.1016\/j.jaci.2012.11.050","article-title":"Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects","volume":"131","author":"Stepensky","year":"2013","journal-title":"J.\u00a0Allergy Clin. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib36","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1038\/35079114","article-title":"A frameshift mutation in NOD2 associated with susceptibility to Crohn\u2019s disease","volume":"411","author":"Ogura","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2015.07.008_bib37","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1038\/35079107","article-title":"Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn\u2019s disease","volume":"411","author":"Hugot","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2015.07.008_bib38","doi-asserted-by":"crossref","first-page":"21924","DOI":"10.1074\/jbc.M401178200","article-title":"Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC","volume":"279","author":"Dowds","year":"2004","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2015.07.008_bib39","doi-asserted-by":"crossref","first-page":"6781","DOI":"10.1038\/sj.onc.1209944","article-title":"Unravelling the complexities of the NF-kappaB signalling pathway using mouse knockout and transgenic models","volume":"25","author":"Gerondakis","year":"2006","journal-title":"Oncogene"},{"key":"10.1016\/j.ajhg.2015.07.008_bib40","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1111\/j.1744-313X.2005.00546.x","article-title":"A NFKB1 promoter polymorphism is involved in susceptibility to ulcerative colitis","volume":"32","author":"Borm","year":"2005","journal-title":"Int. J. Immunogenet."},{"key":"10.1016\/j.ajhg.2015.07.008_bib41","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1093\/hmg\/ddh008","article-title":"Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis","volume":"13","author":"Karban","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2015.07.008_bib42","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1111\/j.1600-065X.2012.01106.x","article-title":"NF-\u03baB function in B lymphocytes","volume":"246","author":"Kaileh","year":"2012","journal-title":"Immunol. Rev."},{"key":"10.1016\/j.ajhg.2015.07.008_bib43","doi-asserted-by":"crossref","first-page":"a000182","DOI":"10.1101\/cshperspect.a000182","article-title":"Roles of the NF-kappaB pathway in lymphocyte development and function","volume":"2","author":"Gerondakis","year":"2010","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib44","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1097\/01.all.0000191887.89773.cc","article-title":"TACItly changing tunes: farewell to a yin and yang of BAFF receptor and TACI in humoral immunity? New genetic defects in common variable immunodeficiency","volume":"5","author":"Salzer","year":"2005","journal-title":"Curr. Opin. Allergy Clin. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib45","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1007\/s003350010125","article-title":"Molecular cloning and functional characterization of murine transmembrane activator and CAML interactor (TACI) with chromosomal localization in human and mouse","volume":"11","author":"von B\u00fclow","year":"2000","journal-title":"Mamm. Genome"},{"key":"10.1016\/j.ajhg.2015.07.008_bib46","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1016\/j.jaci.2014.11.038","article-title":"Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease","volume":"135","author":"Lougaris","year":"2015","journal-title":"J.\u00a0Allergy Clin. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib47","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1186\/s12881-014-0139-9","article-title":"Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies","volume":"15","author":"Brue","year":"2014","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.ajhg.2015.07.008_bib48","doi-asserted-by":"crossref","first-page":"2964","DOI":"10.1182\/blood-2014-06-578542","article-title":"Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100","volume":"124","author":"Lee","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.ajhg.2015.07.008_bib49","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1007\/s10875-014-0095-3","article-title":"Combined immune deficiency in a patient with a novel NFKB2 mutation","volume":"34","author":"Lindsley","year":"2014","journal-title":"J.\u00a0Clin. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib50","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1007\/s10875-014-0064-x","article-title":"Novel NFKB2 mutation in early-onset CVID","volume":"34","author":"Liu","year":"2014","journal-title":"J.\u00a0Clin. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib51","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1016\/j.ajhg.2013.09.009","article-title":"Germline mutations in NFKB2 implicate the noncanonical NF-\u03baB pathway in the pathogenesis of common variable immunodeficiency","volume":"93","author":"Chen","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.07.008_bib52","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."},{"key":"10.1016\/j.ajhg.2015.07.008_bib53","doi-asserted-by":"crossref","first-page":"2499","DOI":"10.1093\/nar\/19.9.2499","article-title":"A rapid micropreparation technique for extraction of DNA-binding proteins from limiting numbers of mammalian cells","volume":"19","author":"Andrews","year":"1991","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2015.07.008_bib54","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2015.07.008_bib55","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2015.07.008_bib56","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"DePristo","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2015.07.008_bib57","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.ajhg.2015.07.008_bib58","doi-asserted-by":"crossref","first-page":"1945","DOI":"10.1038\/sj.emboj.7601081","article-title":"The 20S proteasome processes NF-kappaB1 p105 into p50 in a translation-independent manner","volume":"25","author":"Moorthy","year":"2006","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2015.07.008_bib59","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1016\/j.jaci.2007.08.035","article-title":"Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency","volume":"120","author":"McDonald","year":"2007","journal-title":"J.\u00a0Allergy Clin. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib60","doi-asserted-by":"crossref","DOI":"10.1016\/j.jaci.2015.05.012","article-title":"TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development","author":"Romberg","year":"2015","journal-title":"J.\u00a0Allergy Clin. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib61","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1016\/j.jaci.2011.02.046","article-title":"Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome","volume":"127","author":"Chinen","year":"2011","journal-title":"J.\u00a0Allergy Clin. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib62","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.1126\/science.1255904","article-title":"Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4","volume":"345","author":"Kuehn","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2015.07.008_bib63","doi-asserted-by":"crossref","first-page":"2551","DOI":"10.4049\/jimmunol.1401463","article-title":"Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency","volume":"194","author":"Boland","year":"2015","journal-title":"J.\u00a0Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib64","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1177\/039463201202500332","article-title":"Vav1 haploinsufficiency in a common variable immunodeficiency patient with defective T-cell function","volume":"25","author":"Capitani","year":"2012","journal-title":"Int. J. Immunopathol. Pharmacol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib65","doi-asserted-by":"crossref","first-page":"2653","DOI":"10.1182\/blood-2011-05-356352","article-title":"Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome","volume":"118","author":"Hsu","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.ajhg.2015.07.008_bib66","doi-asserted-by":"crossref","first-page":"1560","DOI":"10.1126\/science.1260791","article-title":"Immunology. Autoimmunity by haploinsufficiency","volume":"345","author":"Rieux-Laucat","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2015.07.008_bib67","first-page":"162","article-title":"Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency","volume":"5","author":"Al-Herz","year":"2014","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ajhg.2015.07.008_bib68","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/0092-8674(95)90415-8","article-title":"Targeted disruption of the p50 subunit of NF-kappa B leads to multifocal defects in immune responses","volume":"80","author":"Sha","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2015.07.008_bib69","first-page":"931","article-title":"Loss of Nfkb1 leads to early onset aging","volume":"6","author":"Bernal","year":"2014","journal-title":"Aging (Albany, N.Y.)"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929715002840?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929715002840?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T11:44:35Z","timestamp":1777376675000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929715002840"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9]]},"references-count":69,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["S0002929715002840"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2015.07.008","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.725726957.793529891","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2015,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Haploinsufficiency of the NF-\u03baB1 Subunit p50 in Common Variable Immunodeficiency","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2015.07.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}