{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T07:35:34Z","timestamp":1767339334743},"reference-count":20,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2007,11,1]],"date-time":"2007-11-01T00:00:00Z","timestamp":1193875200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Immunology"],"published-print":{"date-parts":[[2007,11]]},"DOI":"10.1016\/j.clim.2007.06.007","type":"journal-article","created":{"date-parts":[[2007,9,13]],"date-time":"2007-09-13T12:24:28Z","timestamp":1189686268000},"page":"159-164","source":"Crossref","is-referenced-by-count":28,"title":["IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD"],"prefix":"10.1016","volume":"125","author":[{"given":"Manish J.","family":"Butte","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles","family":"Haines","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco A.","family":"Bonilla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Puck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.clim.2007.06.007_bib1","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1038\/3877","article-title":"Defective IL7R expression in T(\u2212)B(+)NK(+) severe combined immunodeficiency","volume":"20","author":"Puel","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clim.2007.06.007_bib2","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1146\/annurev.immunol.22.012703.104614","article-title":"Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution","volume":"22","author":"Buckley","year":"2004","journal-title":"Annu. Rev. Immunol."},{"key":"10.1016\/j.clim.2007.06.007_bib3","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1111\/j.0105-2896.2005.00234.x","article-title":"Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients","volume":"203","author":"Giliani","year":"2005","journal-title":"Immunol. Rev."},{"key":"10.1016\/j.clim.2007.06.007_bib4","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.jpeds.2005.10.004","article-title":"Omenn syndrome in an infant with IL7RA gene mutation","volume":"148","author":"Giliani","year":"2006","journal-title":"J. Pediatr."},{"key":"10.1016\/j.clim.2007.06.007_bib5","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1111\/j.1600-0404.1994.tb02731.x","article-title":"Immunogenetic heterogeneity and associated autoimmune disorders in myasthenia gravis: a population-based survey in the province of Ferrara, northern Italy","volume":"90","author":"Tola","year":"1994","journal-title":"Acta Neurol. Scand."},{"key":"10.1016\/j.clim.2007.06.007_bib6","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1111\/j.1600-065X.1999.tb01398.x","article-title":"The genetic basis for the association of the 8.1 ancestral haplotype (A1, B8, DR3) with multiple immunopathological diseases","volume":"167","author":"Price","year":"1999","journal-title":"Immunol. Rev."},{"key":"10.1016\/j.clim.2007.06.007_bib7","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1038\/sj.bmt.1701575","article-title":"Myasthenia gravis and polymyositis as manifestations of chronic graft-versus-host-disease","volume":"23","author":"Tse","year":"1999","journal-title":"Bone Marrow Transplant"},{"key":"10.1016\/j.clim.2007.06.007_bib8","first-page":"503","article-title":"A patient of chronic graft-versus-host disease presenting simultaneously with polymyositis and myasthenia gravis","volume":"41","author":"Yanagihara","year":"2001","journal-title":"Rinsho Shinkeigaku"},{"key":"10.1016\/j.clim.2007.06.007_bib9","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1038\/sj.bmt.1703711","article-title":"Chronic graft-versus-host disease manifesting as polymyositis: an uncommon presentation","volume":"30","author":"Couriel","year":"2002","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.clim.2007.06.007_bib10","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1097\/01.tp.0000183878.53367.77","article-title":"Association of mixed hematopoietic chimerism with elevated circulating autoantibodies and chronic graft-versus-host disease occurrence","volume":"81","author":"Perruche","year":"2006","journal-title":"Transplantation"},{"key":"10.1016\/j.clim.2007.06.007_bib11","doi-asserted-by":"crossref","first-page":"2556","DOI":"10.4049\/jimmunol.178.4.2556","article-title":"Differential biological role of CD3 Chains revealed by human immunodeficiencies","volume":"178","author":"Recio","year":"2007","journal-title":"J. Immunol."},{"key":"10.1016\/j.clim.2007.06.007_bib12","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1038\/302591a0","article-title":"Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes","volume":"302","author":"Treisman","year":"1983","journal-title":"Nature"},{"key":"10.1016\/j.clim.2007.06.007_bib13","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1073\/pnas.88.3.815","article-title":"Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation","volume":"88","author":"Mitchell","year":"1991","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.clim.2007.06.007_bib14","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1056\/NEJM199410133311503","article-title":"A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations","volume":"331","author":"Highsmith","year":"1994","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.clim.2007.06.007_bib15","first-page":"623","article-title":"A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype","volume":"56","author":"Chillon","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.clim.2007.06.007_bib16","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1007\/PL00008709","article-title":"A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene","volume":"103","author":"Vervoort","year":"1998","journal-title":"Hum. Genet."},{"key":"10.1016\/j.clim.2007.06.007_bib17","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1093\/hmg\/4.4.651","article-title":"Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5\u2032-splice site","volume":"4","author":"Yamada","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.clim.2007.06.007_bib18","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1093\/hmg\/9.2.237","article-title":"Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1","volume":"9","author":"Ars","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.clim.2007.06.007_bib19","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1038\/ng858","article-title":"A new type of mutation causes a splicing defect in ATM","volume":"30","author":"Pagani","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clim.2007.06.007_bib20","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1034\/j.1399-0004.2003.00077.x","article-title":"Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease","volume":"63","author":"Lai","year":"2003","journal-title":"Clin. Genet."}],"container-title":["Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661607012557?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661607012557?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,4]],"date-time":"2019-01-04T04:32:22Z","timestamp":1546576342000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521661607012557"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,11]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,11]]}},"alternative-id":["S1521661607012557"],"URL":"https:\/\/doi.org\/10.1016\/j.clim.2007.06.007","relation":{},"ISSN":["1521-6616"],"issn-type":[{"value":"1521-6616","type":"print"}],"subject":[],"published":{"date-parts":[[2007,11]]}}}