{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T16:00:11Z","timestamp":1791302411840,"version":"4.1.0"},"reference-count":44,"publisher":"Frontiers Media SA","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Front. Immunol."],"DOI":"10.3389\/fimmu.2014.00340","type":"journal-article","created":{"date-parts":[[2014,7,18]],"date-time":"2014-07-18T08:08:03Z","timestamp":1405670883000},"source":"Crossref","is-referenced-by-count":23,"title":["Next Generation Sequencing Reveals Skewing of the T and B Cell Receptor Repertoires in Patients with Wiskott\u00e2\u20ac\u201cAldrich Syndrome"],"prefix":"10.3389","volume":"5","author":[{"given":"Amy E.","family":"O\u00e2\u20ac\u2122Connell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Volpi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerry","family":"Dobbs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Fiorini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erdyni","family":"Tsitsikov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"de Boer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isil B.","family":"Barlan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny M.","family":"Despotovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco J.","family":"Espinosa-Rosales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. Celine","family":"Hanson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria G.","family":"Kanariou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roxana","family":"Mart\u00c3\u00adnez-Beckerat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alvaro","family":"Mayorga-Sirera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Mejia-Carvajal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nesrine","family":"Radwan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron R.","family":"Weiss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung-Yun","family":"Pai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu Nee","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi D.","family":"Notarangelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2014,7,18]]},"reference":[{"key":"B1","first-page":"212","article-title":"Familiarer, angeborener Morbus Werlhofii?","volume":"68","author":"Wiskott","year":"1937","journal-title":"Monatsschr Kinderheilkd"},{"key":"B2","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1542\/peds.13.2.133","article-title":"Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea","volume":"13","author":"Aldrich","year":"1954","journal-title":"Pediatrics"},{"key":"B3","doi-asserted-by":"publisher","first-page":"876","DOI":"10.1016\/S0022-3476(05)82002-5","article-title":"A multiinstitutional survey of the Wiskott-Aldrich syndrome","volume":"125","author":"Sullivan","year":"1994","journal-title":"J Pediatr"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1510","DOI":"10.1182\/blood-2012-08-448118","article-title":"Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome","volume":"121","author":"Mahlaoui","year":"2013","journal-title":"Blood"},{"key":"B5","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1016\/0092-8674(94)90528-2","article-title":"Isolation of a novel gene mutated in Wiskott-Aldrich syndrome","volume":"78","author":"Derry","year":"1994","journal-title":"Cell"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1415","DOI":"10.3324\/haematol.2011.040204","article-title":"The Wiskott-Aldrich syndrome protein permits assembly of a focused immunological synapse enabling sustained T-cell receptor signaling","volume":"96","author":"Calvez","year":"2011","journal-title":"Haematologica"},{"key":"B7","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1111\/imr.12112","article-title":"Wiskott-Aldrich syndrome protein \u00e2\u20ac\u201c dynamic regulation of actin homeostasis: from activation through function and signal termination in T lymphocytes","volume":"256","author":"Matalon","year":"2013","journal-title":"Immunol Rev"},{"key":"B8","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1016\/S0092-8674(00)81050-8","article-title":"Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization","volume":"84","author":"Symons","year":"1996","journal-title":"Cell"},{"key":"B9","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1016\/j.jaci.2006.02.005","article-title":"The Wiskott-Aldrich syndrome","volume":"117","author":"Ochs","year":"2006","journal-title":"J Allergy Clin Immunol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1111\/j.1365-2249.2004.02409.x","article-title":"Early deficit of lymphocytes in Wiskott-Aldrich syndrome: possible role of WASP in human lymphocyte maturation","volume":"136","author":"Park","year":"2004","journal-title":"Clin Exp Immunol"},{"key":"B11","doi-asserted-by":"publisher","first-page":"1364","DOI":"10.1016\/j.jaci.2005.09.006","article-title":"Defective nuclear translocation of nuclear factor of activated T cells and extracellular signal-regulated kinase underlies deficient IL-2 gene expression in Wiskott-Aldrich syndrome","volume":"116","author":"Cianferoni","year":"2005","journal-title":"J Allergy Clin Immunol"},{"key":"B12","doi-asserted-by":"publisher","first-page":"7451","DOI":"10.4049\/jimmunol.177.10.7451","article-title":"Defective Th1 cytokine gene transcription in CD4+ and CD8+ T cells from Wiskott-Aldrich syndrome patients","volume":"177","author":"Trifari","year":"2006","journal-title":"J Immunol"},{"key":"B13","doi-asserted-by":"publisher","first-page":"2033","DOI":"10.1084\/jem.20110200","article-title":"WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity","volume":"208","author":"Becker-Herman","year":"2011","journal-title":"J Exp Med"},{"key":"B14","doi-asserted-by":"publisher","first-page":"2819","DOI":"10.1182\/blood-2011-09-379412","article-title":"B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice","volume":"119","author":"Recher","year":"2012","journal-title":"Blood"},{"key":"B15","doi-asserted-by":"publisher","first-page":"4139","DOI":"10.1182\/blood-2008-02-140715","article-title":"WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone B-cell homeostasis and function","volume":"112","author":"Westerberg","year":"2008","journal-title":"Blood"},{"key":"B16","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1016\/j.jaut.2013.10.006","article-title":"Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans","volume":"50","author":"Castiello","year":"2013","journal-title":"J Autoimmun"},{"key":"B17","doi-asserted-by":"publisher","first-page":"896.e\u00e2\u20ac\u201c9.e","DOI":"10.1016\/j.jaci.2013.08.050","article-title":"Molecular and phenotypic abnormalities of B lymphocytes in patients with Wiskott-Aldrich syndrome","volume":"133","author":"Simon","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"B18","doi-asserted-by":"publisher","first-page":"13451","DOI":"10.1073\/pnas.0901984106","article-title":"Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells","volume":"106","author":"Rakhmanov","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B19","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1038\/nri1292","article-title":"The many important facets of T-cell repertoire diversity","volume":"4","author":"Nikolich-Zugich","year":"2004","journal-title":"Nat Rev Immunol"},{"key":"B20","doi-asserted-by":"publisher","first-page":"3895","DOI":"10.1182\/blood-2005-06-2336","article-title":"Analysis of T-cell repertoire diversity in Wiskott-Aldrich syndrome","volume":"106","author":"Wada","year":"2005","journal-title":"Blood"},{"key":"B21","doi-asserted-by":"publisher","first-page":"227ra233","DOI":"10.1126\/scitranslmed.3007280","article-title":"Gene therapy for Wiskott-Aldrich syndrome \u00e2\u20ac\u201c long-term efficacy and genotoxicity","volume":"6","author":"Braun","year":"2014","journal-title":"Sci Transl Med"},{"key":"B22","doi-asserted-by":"publisher","first-page":"2834","DOI":"10.1002\/eji.201242999","article-title":"Wrestling with the repertoire: the promise and perils of next generation sequencing for antigen receptors","volume":"42","author":"Baum","year":"2012","journal-title":"Eur J Immunol"},{"key":"B23","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1111\/j.1365-2567.2011.03527.x","article-title":"Rep-Seq: uncovering the immunological repertoire through next-generation sequencing","volume":"135","author":"Benichou","year":"2012","journal-title":"Immunology"},{"key":"B24","doi-asserted-by":"publisher","first-page":"3073","DOI":"10.1002\/eji.201242517","article-title":"Next generation sequencing for TCR repertoire profiling: platform-specific features and correction algorithms","volume":"42","author":"Bolotin","year":"2012","journal-title":"Eur J Immunol"},{"key":"B25","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1016\/j.coi.2013.09.017","article-title":"Immunosequencing: applications of immune repertoire deep sequencing","volume":"25","author":"Robins","year":"2013","journal-title":"Curr Opin Immunol"},{"key":"B26","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1007\/978-1-61779-842-9_32","article-title":"IMGT((R)) tools for the nucleotide analysis of immunoglobulin (IG) and T cell receptor (TR) V-(D)-J repertoires, polymorphisms, and IG mutations: IMGT\/V-QUEST and IMGT\/HighV-QUEST for NGS","volume":"882","author":"Alamyar","year":"2012","journal-title":"Methods Mol Biol"},{"key":"B27","doi-asserted-by":"publisher","first-page":"176","DOI":"10.3389\/fimmu.2012.00176","article-title":"Immunoglobulin analysis tool: a novel tool for the analysis of human and mouse heavy and light chain transcripts","volume":"3","author":"Rogosch","year":"2012","journal-title":"Front Immunol"},{"key":"B28","first-page":"1","article-title":"PAST: Paleontological statistics software package for education and data analysis","volume":"4","author":"Hammer","year":"2001","journal-title":"Palaeontol Electronica"},{"issue":"4","key":"B29","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.1016\/j.jaci.2013.10.007","article-title":"A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency","volume":"133","author":"Lee","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"B30","doi-asserted-by":"publisher","first-page":"1124.e\u00e2\u20ac\u201c33.e","DOI":"10.1016\/j.jaci.2013.11.028","article-title":"Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes","volume":"133","author":"Ijspeert","year":"2014","journal-title":"J Allergy Clin Immunol"},{"issue":"4","key":"B31","doi-asserted-by":"publisher","first-page":"1109","DOI":"10.1016\/j.jaci.2013.11.018","article-title":"Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development","volume":"133","author":"Yu","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"B32","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1182\/blood.V55.2.243.243","article-title":"The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets","volume":"55","author":"Ochs","year":"1980","journal-title":"Blood"},{"key":"B33","doi-asserted-by":"publisher","first-page":"670","DOI":"10.1016\/j.immuni.2007.09.006","article-title":"Molecular signature of CD8+ T cell exhaustion during chronic viral infection","volume":"27","author":"Wherry","year":"2007","journal-title":"Immunity"},{"key":"B34","doi-asserted-by":"publisher","first-page":"4285","DOI":"10.4049\/jimmunol.1003898","article-title":"A mechanism for TCR sharing between T cell subsets and individuals revealed by pyrosequencing","volume":"186","author":"Venturi","year":"2011","journal-title":"J Immunol"},{"key":"B35","doi-asserted-by":"publisher","first-page":"2842","DOI":"10.1111\/ajt.12431","article-title":"TCR repertoire analysis by next generation sequencing allows complex differential diagnosis of T cell-related pathology","volume":"13","author":"Dziubianau","year":"2013","journal-title":"Am J Transplant"},{"key":"B36","doi-asserted-by":"publisher","first-page":"263","DOI":"10.3389\/fimmu.2013.00263","article-title":"The shape of the lymphocyte receptor repertoire: lessons from the B cell receptor","volume":"4","author":"Jackson","year":"2013","journal-title":"Front Immunol"},{"key":"B37","doi-asserted-by":"publisher","first-page":"439.e\u00e2\u20ac\u201c48.e","DOI":"10.1016\/j.jaci.2009.11.034","article-title":"Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: analysis of function and distribution in lymphoid organs","volume":"125","author":"Trifari","year":"2010","journal-title":"J Allergy Clin Immunol"},{"key":"B38","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1111\/j.1365-2249.2005.02693.x","article-title":"Phenotypic perturbation of B cells in the Wiskott-Aldrich syndrome","volume":"139","author":"Park","year":"2005","journal-title":"Clin Exp Immunol"},{"key":"B39","doi-asserted-by":"crossref","first-page":"4385","DOI":"10.4049\/jimmunol.146.12.4385","article-title":"Nucleotide sequence analysis of the V regions of two IgM cold agglutinins. Evidence that the VH4-21 gene segment is responsible for the major cross-reactive idiotype","volume":"146","author":"Pascual","year":"1991","journal-title":"J Immunol"},{"key":"B40","doi-asserted-by":"crossref","first-page":"2372","DOI":"10.1182\/blood.V78.9.2372.2372","article-title":"Variable region gene analysis of pathologic human autoantibodies to the related I and I red blood cell antigens","volume":"78","author":"Silberstein","year":"1991","journal-title":"Blood"},{"key":"B41","doi-asserted-by":"publisher","first-page":"2827","DOI":"10.1172\/JCI119111","article-title":"Repertoire cloning of lupus anti-DNA autoantibodies","volume":"98","author":"Roben","year":"1996","journal-title":"J Clin Invest"},{"key":"B42","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1182\/blood.V100.4.1388.h81602001388_1388_1398","article-title":"Genetic analysis of autoantibodies in idiopathic thrombocytopenic purpura reveals evidence of clonal expansion and somatic mutation","volume":"100","author":"Roark","year":"2002","journal-title":"Blood"},{"key":"B43","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1111\/nyas.12049","article-title":"Wiskott-Aldrich syndrome: a comprehensive review","volume":"1285","author":"Massaad","year":"2013","journal-title":"Ann N Y Acad Sci"},{"key":"B44","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1007\/s10238-004-0051-2","article-title":"Molecular basis of immunoglobulin variable region gene usage in systemic autoimmunity","volume":"4","author":"Dorner","year":"2005","journal-title":"Clin Exp Med"}],"container-title":["Frontiers in Immunology"],"original-title":[],"deposited":{"date-parts":[[2023,7,15]],"date-time":"2023-07-15T09:53:40Z","timestamp":1689414820000},"score":1,"resource":{"primary":{"URL":"http:\/\/journal.frontiersin.org\/article\/10.3389\/fimmu.2014.00340\/abstract"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,18]]},"references-count":44,"URL":"https:\/\/doi.org\/10.3389\/fimmu.2014.00340","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7,18]]}}}