{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T06:17:12Z","timestamp":1697264232104},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2008,9,1]],"date-time":"2008-09-01T00:00:00Z","timestamp":1220227200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2008,9]]},"DOI":"10.1007\/s12098-008-0197-0","type":"journal-article","created":{"date-parts":[[2008,11,14]],"date-time":"2008-11-14T09:38:02Z","timestamp":1226655482000},"page":"944-946","source":"Crossref","is-referenced-by-count":8,"title":["Omenn Syndrome with Mutation in RAG1 Gene"],"prefix":"10.1007","volume":"75","author":[{"given":"I. Cherkaoui","family":"Jaouad","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Ouldim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Ali Ou Alla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Kriouile","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Villa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Sefiani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,11,15]]},"reference":[{"key":"197_CR1","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1056\/NEJM196508192730806","volume":"19","author":"G.S. Omenn","year":"1965","unstructured":"Omenn GS. Familial reticuloendotheliosis with eosinophilia. N Engl J Med 1965; 19: 427\u2013432.","journal-title":"N Engl J Med"},{"key":"197_CR2","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1097\/01.bor.0000231907.50290.6f","volume":"18","author":"M. Honig","year":"2006","unstructured":"Honig M, Schwarz K. Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation. Curr Opin Rheumatol 2006; 18: 383\u2013388.","journal-title":"Curr Opin Rheumatol"},{"key":"197_CR3","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1542\/peds.81.1.66","volume":"81","author":"M.T. Glover","year":"1988","unstructured":"Glover MT, Atherton DJ, Levinsky RJ. Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency. Pediatrics 1988; 81: 66\u201372.","journal-title":"Pediatrics"},{"key":"197_CR4","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1182\/blood.V96.1.203","volume":"96","author":"J.G. Noordzij","year":"2000","unstructured":"Noordzij JG, Verkaik NS, Hartwig NG, de Groot R, van Gent DC, van Dongen JJ. N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements. Blood 2000; 96: 203\u2013209.","journal-title":"Blood"},{"key":"197_CR5","doi-asserted-by":"crossref","first-page":"3291","DOI":"10.1172\/JCI25178","volume":"115","author":"J.P. Villartay de","year":"2005","unstructured":"de Villartay JP, Lim A, Al-Mousa H, Dupont S, Dechanet-Merville J, Coumau-Gatbois E et al. A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest 2005; 115: 3291\u20133299.","journal-title":"J Clin Invest"},{"key":"197_CR6","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1016\/S0046-8177(87)80376-3","volume":"18","author":"H. Jouan","year":"1987","unstructured":"Jouan H, Le Deist F, Nezelof C. Omenn\u2019s syndrome-Pathologic arguments in favor of a graft versus host pathogenesis: a report of nine cases. Hum Pathol 1987; 18: 1101\u20131108.","journal-title":"Hum Pathol"},{"key":"197_CR7","first-page":"157","volume":"14","author":"A.L. Appleton","year":"1994","unstructured":"Appleton AL, Curtis A, Wilkes J, Cant AJ. Differentiation of materno-fetal GVHD from Omenn\u2019s syndrome in pre-BMT patients with severe combined immunodeficiency. Bone Marrow Transplant 1994; 14: 157\u2013159.","journal-title":"Bone Marrow Transplant"},{"key":"197_CR8","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1023\/A:1027330800085","volume":"17","author":"T.O. Harville","year":"1997","unstructured":"Harville TO, Adams DM, Howard TA, Ware RE. Oligoclonal expansion of CD45RO+ T lymphocytes in Omenn syndrome. J Clin Immunol 1997; 17: 322\u2013332.","journal-title":"J Clin Immunol"},{"key":"197_CR9","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/S0092-8674(00)81448-8","volume":"93","author":"A. Villa","year":"1998","unstructured":"Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L et al. Partial V(D)J recombination activity leads to Omenn syndrome. Cell 1998; 93: 885\u2013896","journal-title":"Cell"},{"key":"197_CR10","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1126\/science.274.5284.97","volume":"274","author":"K. Schwarz","year":"1996","unstructured":"Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D et al. RAG mutations in human B cell-negative SCID. Science 1996; 274: 97\u201399.","journal-title":"Science"},{"key":"197_CR11","doi-asserted-by":"crossref","first-page":"4179","DOI":"10.1182\/blood-2004-12-4861","volume":"105","author":"M. Ege","year":"2005","unstructured":"Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR et al. Omenn syndrome due to ARTEMIS mutations. Blood 2005; 105: 4179\u20134186.","journal-title":"Blood"},{"key":"197_CR12","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/S0092-8674(01)00309-9","volume":"105","author":"D. Moshous","year":"2001","unstructured":"Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F et al. Artemis, a novel DNA double-strand break repair\/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 2001; 105: 177\u2013186.","journal-title":"Cell"},{"key":"197_CR13","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.jpeds.2005.10.004","volume":"148","author":"S. Giliani","year":"2006","unstructured":"Giliani S, Bonfim C, de Saint Basile G, Lanzi G, Brousse N, Koliski A et al. Omenn syndrome in an infant with IL7RA gene mutation. J Pediatr 2006; 148: 272\u2013274.","journal-title":"J Pediatr"},{"key":"197_CR14","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/j.jaci.2006.01.003","volume":"117","author":"C.M. Roifman","year":"2006","unstructured":"Roifman CM, Gu Y, Cohen A. Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome. J Allergy Clin Immunol 2006; 117: 897\u2013903.","journal-title":"J Allergy Clin Immunol"},{"key":"197_CR15","doi-asserted-by":"crossref","first-page":"1174","DOI":"10.1002\/humu.20408","volume":"27","author":"C. Sobacchi","year":"2006","unstructured":"Sobacchi C, Marrella V, Rucci F, Vezzoni P, Villa A. RAG-dependent primary immunodeficiencies. Hum Mutat 2006; 27: 1174\u20131184.","journal-title":"Hum Mutat"}],"container-title":["The Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-008-0197-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12098-008-0197-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-008-0197-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,21]],"date-time":"2023-05-21T02:14:09Z","timestamp":1684635249000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12098-008-0197-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9]]},"references-count":15,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2008,9]]}},"alternative-id":["197"],"URL":"https:\/\/doi.org\/10.1007\/s12098-008-0197-0","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9]]}}}