{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T08:41:29Z","timestamp":1683708089777},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[1996,12,1]],"date-time":"1996-12-01T00:00:00Z","timestamp":849398400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[1996,12]]},"DOI":"10.1007\/bf02532522","type":"journal-article","created":{"date-parts":[[2007,1,5]],"date-time":"2007-01-05T07:55:07Z","timestamp":1167983707000},"page":"1018-1024","source":"Crossref","is-referenced-by-count":4,"title":["Interleukin-2 receptor \u03b3-chain mutations in severe combined immunodeficiency with B-lymphocytes"],"prefix":"10.1007","volume":"155","author":[{"given":"I.","family":"Tsuge","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Matsuoka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Abe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Kamachi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Torii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BF02532522_CR1","doi-asserted-by":"crossref","first-page":"5504","DOI":"10.4049\/jimmunol.152.11.5504","volume":"152","author":"T Abe","year":"1994","unstructured":"Abe T, Tsuge I, Kamachi Y, Torii S, Utsumi K, Akahori Y, Ichihara Y, Kurosawa Y, Matsuoka H (1994) Evidence for defects in V(D)J rearrangements in patients with severe combined immunodeficiency. J Immunol 152: 5504\u20135513","journal-title":"J Immunol"},{"key":"BF02532522_CR2","doi-asserted-by":"crossref","first-page":"2398","DOI":"10.4049\/jimmunol.136.7.2398","volume":"136","author":"RH Buckley","year":"1986","unstructured":"Buckley RH, Schiff SE, Sampson HA, Schiff RI, Markert ML, Knutsen AP, Hershfield MS, Huang AT, Mickey GH, Ward FE (1986) Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation. J Immunol 136:2398\u20132407","journal-title":"J Immunol"},{"key":"BF02532522_CR3","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1002\/eji.1830240232","volume":"24","author":"JP DiSanto","year":"1994","unstructured":"DiSanto JP, Dautry-Varsat A, Certain S, Fischer A, De Saint Basile G (1994) Interleukin-2 (IL-2) receptor \u03b3 chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding. Eur J Immunol 24:475\u2013479","journal-title":"Eur J Immunol"},{"key":"BF02532522_CR4","first-page":"83","volume":"3","author":"A Fischer","year":"1992","unstructured":"Fischer A (1992) Severe combined immunodeficiencies. Immunodeficiency Reviews 3:83\u2013100","journal-title":"Immunodeficiency Reviews"},{"key":"BF02532522_CR5","doi-asserted-by":"crossref","first-page":"2822","DOI":"10.1002\/j.1460-2075.1994.tb06576.x","volume":"13","author":"JG Giri","year":"1994","unstructured":"Giri JG, Ahdieh M, Eisenman J, Shanebeck K, Grabstein K, Kumaki S, Namen A, Park LS, Cosman D, Anderson D (1994) Utilization of the \u03b2 and \u03b3 chains of the IL-2 receptor by the novel cytokine IL-15. EMBO J 13:2822\u20132830","journal-title":"EMBO J"},{"key":"BF02532522_CR6","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.4049\/jimmunol.153.3.1310","volume":"153","author":"N Ishii","year":"1994","unstructured":"Ishii N, Asao H, Kimura Y, Takeshita T, Nakamura M, Tsuchiya S, Konno T, Maeda M, Uchiyama T, Sugamura K (1994) Impairment of ligand binding and growth signaling of mutant IL-2 receptor \u03b3-chains in patients with X-linked severe combined immunodeficiency. J Immunol 153:1310\u20131317","journal-title":"J Immunol"},{"key":"BF02532522_CR7","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1007\/BF00194629","volume":"86","author":"M Krawczak","year":"1991","unstructured":"Krawczak M, Cooper DN (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425\u2013441","journal-title":"Hum Genet"},{"key":"BF02532522_CR8","doi-asserted-by":"crossref","first-page":"1874","DOI":"10.1126\/science.8266076","volume":"262","author":"M Kondo","year":"1993","unstructured":"Kondo M, Takeshita T, Ishii N, Nakamura M, Watanabe S, Arai K, Sugamura K (1993) Sharing of the interleukin-2 (IL-2) receptor \u03b3 chain between receptors for IL-2 and IL-4. Science 262:1874\u20131877","journal-title":"Science"},{"key":"BF02532522_CR9","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1126\/science.8128231","volume":"263","author":"M Kondo","year":"1994","unstructured":"Kondo M, Takeshita T, Higuchi M, Nakamura M, Sudo T, Nishikawa S, Sugamura K (1994) Functional participation of the IL-2 receptor \u03b3 chain in IL-7 receptor complexes. Science 263: 1453\u20131454","journal-title":"Science"},{"key":"BF02532522_CR10","volume-title":"Molecular cloning: a laboratory manual","author":"T Maniatis","year":"1982","unstructured":"Maniatis T, Fritsch EF, Sambrook J (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, New York"},{"key":"BF02532522_CR11","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1006\/geno.1994.1265","volume":"21","author":"S Markiewicz","year":"1994","unstructured":"Markiewicz S, Subtil A, Dautry-Varsat A, Fischer A, De Saint Basile G, (1994) Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor \u03b3 chain gene in SCIDX1 that differently affect the mRNA processing. Genomics 21:291\u2013293","journal-title":"Genomics"},{"key":"BF02532522_CR12","doi-asserted-by":"crossref","first-page":"3191","DOI":"10.1002\/j.1460-2075.1991.tb04881.x","volume":"10","author":"T Miyazaki","year":"1991","unstructured":"Miyazaki T, Maruyama M, Yamada G, Hatakeyama M, Taniguchi T (1991) The integrity of the conserved \u2018WS motif\u2019 common to IL-2 and other cytokine receptors is essential for ligand binding and signal transduction. EMBO J 10:3191\u20133197","journal-title":"EMBO J"},{"key":"BF02532522_CR13","doi-asserted-by":"crossref","first-page":"2503","DOI":"10.1093\/nar\/17.7.2503","volume":"17","author":"CR Newton","year":"1989","unstructured":"Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF (1989) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17:2503\u20132516","journal-title":"Nucleic Acids Res"},{"key":"BF02532522_CR14","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/0092-8674(93)90167-O","volume":"73","author":"M Noguchi","year":"1993","unstructured":"Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW Leonard, WJ (1993) Interleukin-2 receptor \u03b3 chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73: 147\u2013157","journal-title":"Cell"},{"key":"BF02532522_CR15","doi-asserted-by":"crossref","first-page":"13601","DOI":"10.1016\/S0021-9258(19)38691-0","volume":"268","author":"M Noguchi","year":"1993","unstructured":"Noguchi M, Adelstein S, Cao X, Leonard, WJ (1993) Characterization of the human interleukin-2 receptor \u03b3-chain gene. J Biol Chem 268:13601\u201313608","journal-title":"J Biol Chem"},{"key":"BF02532522_CR16","doi-asserted-by":"crossref","first-page":"1877","DOI":"10.1126\/science.8266077","volume":"262","author":"M Noguchi","year":"1993","unstructured":"Noguchi M, Nakamura Y, Russell SM, Ziegler SF, Tsang M, Cao X, Leonard WJ (1993) Interleukin-2 receptor \u03b3-chain: a functional component of the interleukin-7 receptor. Science 262: 1877\u20131880","journal-title":"Science"},{"key":"BF02532522_CR17","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1093\/hmg\/2.8.1099","volume":"2","author":"JM Puck","year":"1993","unstructured":"Puck JM, Desch\u00eanes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, Henthorn PS (1993) The interleukin-2 receptor \u03b3 chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet 2:1099\u20131104","journal-title":"Hum Mol Genet"},{"key":"BF02532522_CR18","unstructured":"Report of a WHO scientific group. (1992) Primary immunodeficiency diseases. Immunofefic Rev 3:195\u2013236"},{"key":"BF02532522_CR19","doi-asserted-by":"crossref","first-page":"1880","DOI":"10.1126\/science.8266078","volume":"262","author":"SM Russell","year":"1993","unstructured":"Russell SM, Keegan AD, Harada N, Nakamura Y, Noguchi M, Leland P, Friedmann MC, Miyajima A, Puri RK, Paul WE, Leonard WJ (1993) Interleukin-2 receptor \u03b3 chain: a functional component of the interleukin-4 receptor. Science 262:1880\u20131883","journal-title":"Science"},{"key":"BF02532522_CR20","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1126\/science.7973658","volume":"266","author":"SM Russell","year":"1994","unstructured":"Russell SM, Johnston JA, Noguchi M, Kawamura M, Bacon CM, Friedmann M, Berg M, McVicar DW, Witthuhn BA, Silvennoinen O, Goldman AS, Schmalstieg FC, Ihle JN, O'Shea JJ, Leonard WJ (1994) Interaction of IL-2R\u03b2 and \u03b3c chains with Jak1 and Jak3: implications for XSCID and XCID. Science 266:1042\u20131045","journal-title":"Science"},{"key":"BF02532522_CR21","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1038\/352621a0","volume":"352","author":"H Schorle","year":"1991","unstructured":"Schorle H, Holtschke T, H\u00fcnig T, Schimpl A, Horak I (1991) Development and function of T cells in mice rendered interleukin-2 deficient by gene targeting. Nature 352:621\u2013624","journal-title":"Nature"},{"key":"BF02532522_CR22","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1126\/science.1631559","volume":"257","author":"T Takeshita","year":"1992","unstructured":"Takeshita T, Asao H, Ohtani K, Ishii N, Kumaki S, Tanaka N, Munakata H, Nakamura M, Sugamura K (1992) Cloning of the \u03b3 chain of the human IL-2 receptor. Science 257:379\u2013382","journal-title":"Science"},{"key":"BF02532522_CR23","first-page":"444","volume":"584","author":"I Tsuge","year":"1984","unstructured":"Tsuge I, Ueda R, Nishida K, Namikawa R, Seto M, Maruyama T, Takamoto S, Matsuoka H, Torii S, Ota K, Takahashi T (1984) Five antigens on human T cells detected by mouse monoclonal antibodies. Clin Exp Immunol 584:444\u2013452","journal-title":"Clin Exp Immunol"},{"key":"BF02532522_CR24","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1084\/jem.181.4.1519","volume":"181","author":"U Freeden-Jeffry Von","year":"1995","unstructured":"Von Freeden-Jeffry U, Vieira P, Lucian LA, McNeil T, Burdach SEG, Murray R (1995) Lymphopenia in interleukin (IL)-7 gene-deleted mice identifies IL-7 as a nonredundant cytokine. J Exp Med 181:1519\u20131526","journal-title":"J Exp Med"},{"key":"BF02532522_CR25","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1002\/j.1460-2075.1993.tb05815.x","volume":"12","author":"H Yawata","year":"1993","unstructured":"Yawata H, Yasukawa K, Natsuka S, Murakami M, Yamasaki K, Hibi M, Taga T, Kishimoto T (1993) Structure-function analysis of human IL-6 receptor: dissociation of amino acid residues required for IL-6-binding and for IL-6 signal transduction through gp130. EMBO J 12:1705\u20131712","journal-title":"EMBO J"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02532522.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF02532522\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02532522","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T08:23:54Z","timestamp":1683707034000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF02532522"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,12]]},"references-count":25,"journal-issue":{"issue":"12","published-print":{"date-parts":[[1996,12]]}},"alternative-id":["BF02532522"],"URL":"https:\/\/doi.org\/10.1007\/bf02532522","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,12]]}}}