{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,21]],"date-time":"2024-07-21T04:37:08Z","timestamp":1721536628208},"reference-count":22,"publisher":"Wiley","issue":"7-8","license":[{"start":{"date-parts":[[2012,8,28]],"date-time":"2012-08-28T00:00:00Z","timestamp":1346112000000},"content-version":"vor","delay-in-days":27,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIH","award":["5R21AI85488-2"],"award-info":[{"award-number":["5R21AI85488-2"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Proteomics Clinical Apps"],"published-print":{"date-parts":[[2012,8]]},"abstract":"<jats:sec><jats:title>Purpose<\/jats:title><jats:p>Early diagnosis of primary immunodeficiency disorders (<jats:styled-content style=\"fixed-case\">PIDD<\/jats:styled-content>s) is critical for maximizing patient survival and clinical outcomes. Consequently, there is significant interest in developing broad\u2010based, high\u2010throughput, screening approaches capable of utilizing small blood volumes to identify patients with <jats:styled-content style=\"fixed-case\">PIDD<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Experimental design<\/jats:title><jats:p>We developed a novel proteomic screening approach using tandem mass spectrometry to simultaneously identify specific signature peptides derived from the transmembrane protein cluster of differentiation 3 (<jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>3)\u025b and the intracellular proteins <jats:styled-content style=\"fixed-case\">W<\/jats:styled-content>iskott\u2010<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>ldrich syndrome protein (<jats:styled-content style=\"fixed-case\">WASP<\/jats:styled-content>) and <jats:styled-content style=\"fixed-case\">B<\/jats:styled-content>ruton's tyrosine kinase (<jats:styled-content style=\"fixed-case\">BTK<\/jats:styled-content>) as markers of three life\u2010threatening <jats:styled-content style=\"fixed-case\">PIDD<\/jats:styled-content>s; severe combined immunodeficiency, Wiskott\u2010Aldrich syndrome, and <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>gammaglobulinemia. Signature peptides were analyzed by <jats:styled-content style=\"fixed-case\">LC\/MS\u2010MS<\/jats:styled-content> in proteolytically digested lysates from cell lines and white blood cells (<jats:styled-content style=\"fixed-case\">WBC<\/jats:styled-content>s). The amount of each peptide was determined by the ratio of the signature peptide peak area to that of a known amount of labeled standard peptide. Peptide concentrations were normalized to actin.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We show that signature peptides from <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>3\u025b, <jats:styled-content style=\"fixed-case\">WASP<\/jats:styled-content>, and <jats:styled-content style=\"fixed-case\">BTK<\/jats:styled-content> were readily detected in proteolytically digested cell lysate and their absence could correctly identify <jats:styled-content style=\"fixed-case\">PIDD<\/jats:styled-content> patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions and clinical relevance<\/jats:title><jats:p>This proof of concept study demonstrates the applicability of this approach to screen for <jats:styled-content style=\"fixed-case\">PIDD<\/jats:styled-content> and raises the possibility that it could be further multiplexed to identify additional <jats:styled-content style=\"fixed-case\">PIDD<\/jats:styled-content>s and potentially other disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/prca.201100096","type":"journal-article","created":{"date-parts":[[2012,8,28]],"date-time":"2012-08-28T09:55:04Z","timestamp":1346147704000},"page":"394-402","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Tryptic peptide screening for primary immunodeficiency disease by <scp>LC<\/scp>\/<scp>MS\u2010MS<\/scp>"],"prefix":"10.1002","volume":"6","author":[{"given":"Sandra A.","family":"Kerfoot","sequence":"first","affiliation":[{"name":"Seattle Children's Hospital Research Institute  Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunhee","family":"Jung","sequence":"additional","affiliation":[{"name":"Seattle Children's Hospital Research Institute  Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Golob","sequence":"additional","affiliation":[{"name":"Division of Immunology Department of Pediatrics University of Washington School of Medicine  Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Troy R.","family":"Torgerson","sequence":"additional","affiliation":[{"name":"Seattle Children's Hospital Research Institute  Seattle WA USA"},{"name":"Division of Immunology Department of Pediatrics University of Washington School of Medicine  Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Si Houn","family":"Hahn","sequence":"additional","affiliation":[{"name":"Seattle Children's Hospital Research Institute  Seattle WA USA"},{"name":"Division of Genetic Medicine Department of Pediatrics University of Washington School of Medicine  Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,8,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1001\/jama.295.5.508","article-title":"Bone marrow transplantation for severe combined immune deficiency","volume":"295","author":"Grunebaum E.","year":"2006","journal-title":"JAMA"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12026-007-0042-y"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.9.2772"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000105752.80592.A3"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.274.5284.97"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00227.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.150"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.18.7220"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90528-2"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)14:1<54::AID-HUMU7>3.0.CO;2-E"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82002-5"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.9.6.722"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-065X.1994.tb00849.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/361226a0"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1477-5956-1-5"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.R200007-MCP200"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchromb.2008.11.020"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M800008-MCP200"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M110.005645"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ab.2006.12.023"},{"key":"e_1_2_7_22_1","unstructured":"Lipstein E. 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