{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:39:57Z","timestamp":1787240397756,"version":"build-2736575974"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2017,8,3]],"date-time":"2017-08-03T00:00:00Z","timestamp":1501718400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2017,8,3]],"date-time":"2017-08-03T00:00:00Z","timestamp":1501718400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Immun"],"published-print":{"date-parts":[[2017,9]]},"DOI":"10.1038\/gene.2017.14","type":"journal-article","created":{"date-parts":[[2017,8,3]],"date-time":"2017-08-03T05:01:09Z","timestamp":1501736469000},"page":"197-199","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Autosomal recessive agammaglobulinemia due to defect in \u03bc heavy chain caused by a novel mutation in the IGHM gene"],"prefix":"10.1038","volume":"18","author":[{"given":"P","family":"Silva","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Justicia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Regueiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Fari\u00f1a","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J M","family":"Couselo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Loidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,8,3]]},"reference":[{"key":"BFgene201714_CR1","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1146\/annurev.immunol.021908.132649","volume":"27","author":"ME Conley","year":"2009","unstructured":"Conley ME, Dobbs AK, Farmer DM, Kilic S, Paris K, Grigoriadou S et al. Primary B cell immunodeficiencies: comparisons and contrasts. Annu Rev Immunol 2009; 27: 199\u2013227.","journal-title":"Annu Rev Immunol"},{"key":"BFgene201714_CR2","doi-asserted-by":"publisher","first-page":"1486","DOI":"10.1056\/NEJM199611143352003","volume":"335","author":"L Yel","year":"1996","unstructured":"Yel L, Minegishi Y, Coustan-Smith E, Buckley RH, Tr\u00fcbel H, Pachman LM et al. Mutations in the mu heavy chain gene in patients with agammaglobulinemia. N Engl J Med 1996; 335: 1486\u20131493.","journal-title":"N Engl J Med"},{"key":"BFgene201714_CR3","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1034\/j.1600-065X.2000.17804.x","volume":"178","author":"C Schiff","year":"2000","unstructured":"Schiff C, Lemmers B, Deville A, Fougereau M, Meffre E . Autosomal primary immunodeficiencies affecting human BM B-cell differentiation. Immunol Rev 2000; 178: 91\u201398.","journal-title":"Immunol Rev"},{"key":"BFgene201714_CR4","doi-asserted-by":"publisher","first-page":"1029","DOI":"10.1172\/JCI0215658","volume":"110","author":"E L\u00f3pez Granados","year":"2002","unstructured":"L\u00f3pez Granados E, Porpiglia AS, Hogan MB, Matamoros N, Krasovec S, Pignata C et al. Clinical and molecular analysis of patients with defects in mu heavy chain gene. J Clin Invest 2002; 110: 1029\u20131035.","journal-title":"J Clin Invest"},{"key":"BFgene201714_CR5","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1007\/s00431-002-0994-9","volume":"161","author":"M Milili","year":"2002","unstructured":"Milili M, Antunes H, Blanco-Betancourt C, Nogueiras A, Santos E, Vasconcelos J et al. A new case of autosomal recessive agammaglobulinemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus. Eur J Pediatr 2002; 161: 479\u2013484.","journal-title":"Eur J Pediatr"},{"key":"BFgene201714_CR6","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1038\/sj.gene.6364391","volume":"8","author":"S Ferrari","year":"2007","unstructured":"Ferrari S, Zuntini R, Lougaris V, Soresina A, Sourkov\u00e1 V, Fiorini M et al. Molecular analysis of the pre-B complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia. Genes Imun 2007; 8: 325\u2013333.","journal-title":"Genes Imun"},{"key":"BFgene201714_CR7","first-page":"63","volume":"22","author":"I Mohammadzadeh","year":"2012","unstructured":"Mohammadzadeh I, Yeganeh M, Aghamohammadi A, Parvaneh N, Behniafard N, Abolhassani H et al. Severe primary antibody deficiency due to a novel mutation of \u03bc heavy chain. J Investig Allergol Clin Immunol 2012; 22: 63\u201379.","journal-title":"J Investig Allergol Clin Immunol"},{"key":"BFgene201714_CR8","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1016\/j.ajhg.2007.10.011","volume":"82","author":"M van Zelm","year":"2008","unstructured":"van Zelm M, Geertsema C, Nieuwenhuis N, de Ridder D, Conley ME, Schiff C et al. Gross deletions involving IGHM, BTK, or Artemis: a Model for genomic lesions mediated by transposable elements. Am J Hum Genet 2008; 82: 320\u2013322.","journal-title":"Am J Hum Genet"},{"key":"BFgene201714_CR9","doi-asserted-by":"publisher","first-page":"879","DOI":"10.1172\/JCI13051","volume":"108","author":"E Meffre","year":"2001","unstructured":"Meffre E, Milili M, Blanco-Betancourt C, Antunes H, Nussenzweig MC, Schiff C . Inmunoglobulin heavy chain expression shapes the B cell receptor repertoire in human B cell development. J Clin Invest 2001; 108: 879\u2013886.","journal-title":"J Clin Invest"}],"container-title":["Genes & Immunity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/gene201714.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/gene201714","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/doifinder\/10.1038\/gene.2017.14","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/www.nature.com\/articles\/gene201714.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,22]],"date-time":"2022-03-22T14:30:50Z","timestamp":1647959450000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/gene201714"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,3]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["BFgene201714"],"URL":"https:\/\/doi.org\/10.1038\/gene.2017.14","relation":{},"ISSN":["1466-4879","1476-5470"],"issn-type":[{"value":"1466-4879","type":"print"},{"value":"1476-5470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,3]]},"assertion":[{"value":"18 January 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 June 2017","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 June 2017","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 August 2017","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}