{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T08:41:38Z","timestamp":1761986498161,"version":"3.37.3"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2016,8,18]],"date-time":"2016-08-18T00:00:00Z","timestamp":1471478400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100006492","name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006492","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2016,10]]},"DOI":"10.1007\/s10875-016-0326-x","type":"journal-article","created":{"date-parts":[[2016,8,18]],"date-time":"2016-08-18T03:57:27Z","timestamp":1471492647000},"page":"725-732","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency"],"prefix":"10.1007","volume":"36","author":[{"given":"Tami","family":"John","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jolan E.","family":"Walter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherina","family":"Schuetz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roshini S.","family":"Abraham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmem","family":"Bonfim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas G.","family":"Boyce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Avni Y.","family":"Joshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Kang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz Tavares Costa","family":"Carvalho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arash","family":"Mahajerin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diane","family":"Nugent","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geetha","family":"Puthenveetil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amit","family":"Soni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen","family":"Su","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morton J.","family":"Cowan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi","family":"Notarangelo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Buchbinder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,8,18]]},"reference":[{"issue":"7","key":"326_CR1","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1001\/jama.2014.9132","volume":"312","author":"A Kwan","year":"2014","unstructured":"Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014;312(7):729\u201338.","journal-title":"JAMA"},{"key":"326_CR2","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1146\/annurev.immunol.22.012703.104614","volume":"22","author":"RH Buckley","year":"2004","unstructured":"Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004;22:625\u201355.","journal-title":"Annu Rev Immunol"},{"issue":"4","key":"326_CR3","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1016\/j.jaci.2014.06.021","volume":"134","author":"CC Dvorak","year":"2014","unstructured":"Dvorak CC, Hassan A, Slatter MA, Honig M, Lankester AC, Buckley RH, et al. Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency. J Allergy Clin Immunol. 2014;134(4):935\u201343. e15.","journal-title":"J Allergy Clin Immunol"},{"issue":"11","key":"326_CR4","doi-asserted-by":"crossref","first-page":"4135","DOI":"10.1172\/JCI80477","volume":"125","author":"JE Walter","year":"2015","unstructured":"Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, et al. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Invest. 2015;125(11):4135\u201348.","journal-title":"J Clin Invest"},{"issue":"2","key":"326_CR5","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s10875-014-0121-5","volume":"35","author":"D Buchbinder","year":"2015","unstructured":"Buchbinder D, Baker R, Lee YN, Ravell J, Zhang Y, McElwee J, et al. Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders. J Clin Immunol. 2015;35(2):119\u201324.","journal-title":"J Clin Immunol"},{"issue":"19","key":"326_CR6","doi-asserted-by":"crossref","first-page":"2030","DOI":"10.1056\/NEJMoa073966","volume":"358","author":"C Schuetz","year":"2008","unstructured":"Schuetz C, Huck K, Gudowius S, Megahed M, Feyen O, Hubner B, et al. An immunodeficiency disease with RAG mutations and granulomas. N Engl J Med. 2008;358(19):2030\u20138.","journal-title":"N Engl J Med"},{"issue":"8","key":"326_CR7","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1007\/s10875-013-9953-7","volume":"33","author":"A Reiff","year":"2013","unstructured":"Reiff A, Bassuk AG, Church JA, Campbell E, Bing X, Ferguson PJ. Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease. J Clin Immunol. 2013;33(8):1289\u201392.","journal-title":"J Clin Immunol"},{"issue":"7","key":"326_CR8","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0133220","volume":"10","author":"CB Geier","year":"2015","unstructured":"Geier CB, Piller A, Linder A, Sauerwein KM, Eibl MM, Wolf HM. Leaky RAG deficiency in adult patients with impaired antibody production against bacterial polysaccharide antigens. PLoS One. 2015;10(7), e0133220.","journal-title":"PLoS One"},{"issue":"4","key":"326_CR9","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1016\/j.jaci.2013.10.021","volume":"133","author":"C Schuetz","year":"2014","unstructured":"Schuetz C, Pannicke U, Jacobsen EM, Burggraf S, Albert MH, Honig M, et al. Lesson from hypomorphic recombination-activating gene (RAG) mutations: why asymptomatic siblings should also be tested. J Allergy Clin Immunol. 2014;133(4):1211\u20135.","journal-title":"J Allergy Clin Immunol"},{"issue":"4","key":"326_CR10","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1038\/nri.2016.28","volume":"16","author":"LD Norarangelo","year":"2016","unstructured":"Norarangelo LD, Kim MS, Walter JE, Lee YN. Human RAG mutations: biochemistry and clinical implications. Nat Rev Immunol. 2016;16(4):234\u201346.","journal-title":"Nat Rev Immunol"},{"issue":"3","key":"326_CR11","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1016\/j.jaci.2013.11.038","volume":"133","author":"K Chen","year":"2014","unstructured":"Chen K, Wu W, Mathew D, Zhang Y, Browne SK, Rosen LB, et al. Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1\/2 mutations. J Allergy Clin Immunol. 2014;133(3):880\u20132. e10.","journal-title":"J Allergy Clin Immunol"},{"issue":"5","key":"326_CR12","doi-asserted-by":"crossref","first-page":"e1248","DOI":"10.1542\/peds.2009-3171","volume":"126","author":"EM Avila","year":"2010","unstructured":"Avila EM, Uzel G, Hsu A, Milner JD, Turner ML, Pittaluga S, et al. Highly variable clinical phenotypes of hypomorphic RAG1 mutations. Pediatrics. 2010;126(5):e1248\u201352.","journal-title":"Pediatrics"},{"issue":"8","key":"326_CR13","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1182\/blood-2010-02-267583","volume":"116","author":"SS Ravin De","year":"2010","unstructured":"De Ravin SS, Cowen EW, Zarember KA, Whiting-Theobald NL, Kuhns DB, Sandler NG, et al. Hypomorphic Rag mutations can cause destructive midline granulomatous disease. Blood. 2010;116(8):1263\u201371.","journal-title":"Blood"},{"issue":"4","key":"326_CR14","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1016\/j.jaci.2013.06.032","volume":"132","author":"LA Henderson","year":"2013","unstructured":"Henderson LA, Frugoni F, Hopkins G, de Boer H, Pai SY, Lee YN, et al. Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity. J Allergy Clin Immunol. 2013;132(4):969\u201371. e1-2.","journal-title":"J Allergy Clin Immunol"},{"key":"326_CR15","first-page":"259","volume":"5","author":"V Marrella","year":"2014","unstructured":"Marrella V, Poliani PL, Notarangelo LD, Grassi F, Villa A. Rag defects and thymic stroma: lessons from animal models. Front Immunol. 2014;5:259.","journal-title":"Front Immunol"},{"issue":"1","key":"326_CR16","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.cell.2014.08.026","volume":"159","author":"JM Karo","year":"2014","unstructured":"Karo JM, Schatz DG, Sun JC. The RAG recombinase dictates functional heterogeneity and cellular fitness in natural killer cells. Cell. 2014;159(1):94\u2013107.","journal-title":"Cell"},{"issue":"1","key":"326_CR17","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1046\/j.1365-2141.2001.02468.x","volume":"112","author":"A Dominietto","year":"2001","unstructured":"Dominietto A, Raiola AM, van Lint MT, Lamparelli T, Gualandi F, Berisso G, et al. Factors influencing haematological recovery after allogeneic haemopoietic stem cell transplants: graft-versus-host disease, donor type, cytomegalovirus infections and cell dose. Br J Haematol. 2001;112(1):219\u201327.","journal-title":"Br J Haematol"},{"issue":"7","key":"326_CR18","first-page":"935","volume":"91","author":"A Larocca","year":"2006","unstructured":"Larocca A, Piaggio G, Podesta M, Pitto A, Bruno B, Di Grazia C, et al. Boost of CD34\u2009+\u2009\u2212selected peripheral blood cells without further conditioning in patients with poor graft function following allogeneic stem cell transplantation. Haematologica. 2006;91(7):935\u201340.","journal-title":"Haematologica"},{"issue":"12","key":"326_CR19","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1007\/s00432-015-2027-x","volume":"141","author":"SP Haen","year":"2015","unstructured":"Haen SP, Schumm M, Faul C, Kanz L, Bethge WA, Vogel W. Poor graft function can be durably and safely improved by CD34\u2009+\u2009\u2212selected stem cell boosts after allogeneic unrelated matched or mismatched hematopoietic cell transplantation. J Cancer Res Clin Oncol. 2015;141(12):2241\u201351.","journal-title":"J Cancer Res Clin Oncol"},{"issue":"7","key":"326_CR20","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1038\/sj.bmt.1703389","volume":"29","author":"SN Wolff","year":"2002","unstructured":"Wolff SN. Second hematopoietic stem cell transplantation for the treatment of graft failure, graft rejection or relapse after allogeneic transplantation. Bone Marrow Transplant. 2002;29(7):545\u201352.","journal-title":"Bone Marrow Transplant"},{"issue":"1","key":"326_CR21","volume":"7","author":"A Lev","year":"2012","unstructured":"Lev A, Simon AJ, Bareket M, Bielorai B, Hutt D, Amariglio N, et al. The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients. PLoS One. 2012;7(1), e30494.","journal-title":"PLoS One"},{"issue":"1","key":"326_CR22","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1007\/s10875-012-9797-6","volume":"33","author":"RH Buckley","year":"2013","unstructured":"Buckley RH, Win CM, Moser BK, Parrott RE, Sajaroff E, Sarzotti-Kelsoe M. Post-transplantation B cell function in different molecular types of SCID. J Clin Immunol. 2013;33(1):96\u2013110.","journal-title":"J Clin Immunol"},{"issue":"2","key":"326_CR23","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1182\/blood-2013-01-476432","volume":"123","author":"C Schuetz","year":"2014","unstructured":"Schuetz C, Neven B, Dvorak CC, et al. SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. Blood. 2014;123(2):281\u20139.","journal-title":"Blood"},{"key":"326_CR24","doi-asserted-by":"crossref","unstructured":"Morillo-Gutierrez B, Beier R, Rao K, Burroughs L, Schulz A, Ewins AM, et al. Treosulfan based conditioning for allogeneic HSCT in children with chronic granulomatous disease: a multicenter experience. Blood 2016.","DOI":"10.1182\/blood-2016-03-704015"},{"issue":"12","key":"326_CR25","doi-asserted-by":"crossref","first-page":"1536","DOI":"10.1038\/bmt.2015.171","volume":"50","author":"MA Slatter","year":"2015","unstructured":"Slatter MA, Boztug H, Potschger U, Sykora KW, Lankester A, Yaniv I, et al. Treosulfan-based conditioning regimens for allogeneic hematopoietic stem cell transplantation in children with non-malignant diseases. Bone Marrow Transplant. 2015;50(12):1536\u201341.","journal-title":"Bone Marrow Transplant"},{"issue":"16","key":"326_CR26","doi-asserted-by":"crossref","first-page":"4367","DOI":"10.1182\/blood-2010-10-312082","volume":"117","author":"MA Slatter","year":"2011","unstructured":"Slatter MA, Rao K, Amrolia P, Flood T, Abinun M, Hambleton S, et al. Treosulfan-based conditioning regimens for allogeneic hematopoietic stem cell transplantation in children with primary immunodeficiency: United Kingdom experience. Blood. 2011;117(16):4367\u201375.","journal-title":"Blood"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-016-0326-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10875-016-0326-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-016-0326-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,5,18]],"date-time":"2018-05-18T10:40:41Z","timestamp":1526640041000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10875-016-0326-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,18]]},"references-count":26,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["326"],"URL":"https:\/\/doi.org\/10.1007\/s10875-016-0326-x","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"type":"print","value":"0271-9142"},{"type":"electronic","value":"1573-2592"}],"subject":[],"published":{"date-parts":[[2016,8,18]]}}}