{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,9]],"date-time":"2024-05-09T00:15:09Z","timestamp":1715213709709},"reference-count":11,"publisher":"Tohoku University Medical Press","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Tohoku J. Exp. Med."],"published-print":{"date-parts":[[2021]]},"DOI":"10.1620\/tjem.255.143","type":"journal-article","created":{"date-parts":[[2021,10,19]],"date-time":"2021-10-19T22:15:15Z","timestamp":1634681715000},"page":"143-146","source":"Crossref","is-referenced-by-count":3,"title":["Combined Mutation of the &lt;i&gt;GATA2&lt;\/i&gt; Gene and &lt;i&gt;STAT5B&lt;\/i&gt; Gene in a Patient with Hypogammaglobulinemia and Autoimmunity"],"prefix":"10.1620","volume":"255","author":[{"given":"Zhihui","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Rheumatology and Immunology, West China Hospital, Sichuan University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pingying","family":"Qing","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, West China Hospital, Sichuan University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, West China Hospital, Sichuan University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, West China Hospital, Sichuan University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tony N.","family":"Marion","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, West China Hospital, Sichuan University"},{"name":"Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"622","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"Caldirola, M.S., Rodriguez Broggi, M.G., Gaillard, M.I., Bezrodnik, L. &amp; Zwirner, N.W.(2018)  Primary immunodeficiencies unravel the role of IL-2\/CD25\/STAT5b in human natural killer cell maturation.  <i>Front. Immunol<\/i>., 9, 1429.","DOI":"10.3389\/fimmu.2018.01429"},{"key":"2","unstructured":"Chen, L.L., He, X.L. &amp; Chen, K.K.(2019)  Congenital deaf-mutism with pale complexion and anemia for 1 year in a school-aged girl.  <i>Zhongguo Dang Dai Er Ke Za Zhi<\/i>, 21, 1105-1109."},{"key":"3","doi-asserted-by":"crossref","unstructured":"Chou, J., Lutskiy, M., Tsitsikov, E., Notarangelo, L.D., Geha, R.S. &amp; Dioun, A.(2014)  Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency.  <i>J. Allergy Clin. Immunol<\/i>., 134, 223-226.","DOI":"10.1016\/j.jaci.2014.01.041"},{"key":"4","doi-asserted-by":"crossref","unstructured":"Conley, M.E., Notarangelo, L.D. &amp; Etzioni, A.(1999)  Diagnostic criteria for primary immunodeficiencies.  Representing PAGID (Pan-American Group for Immunodeficiency)  and ESID (European Society for Immunodeficiencies).  <i>Clin. Immunol<\/i>., 93, 190-197.","DOI":"10.1006\/clim.1999.4799"},{"key":"5","doi-asserted-by":"crossref","unstructured":"Fischer, A., Provot, J., Jais, J.P., Alcais, A. &amp; Mahlaoui, N.; members of the  CEREDIH French PID study group(2017)  Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies.  <i>J. Allergy Clin. Immunol<\/i>., 140, 1388-1393 e1388.","DOI":"10.1016\/j.jaci.2016.12.978"},{"key":"6","doi-asserted-by":"crossref","unstructured":"Hoshino, T., Terunuma, T., Takai, J., Uemura, S., Nakamura, Y., Hamada, M., Takahashi, S., Yamamoto, M., Engel, J.D. &amp; Moriguchi, T.(2019)  Spiral ganglion cell degeneration-induced deafness as a consequence of reduced GATA factor activity.  <i>Genes. Cells<\/i>, 24, 534-545.","DOI":"10.1111\/gtc.12705"},{"key":"7","doi-asserted-by":"crossref","unstructured":"Hsu, A.P., Sampaio, E.P., Khan, J., Calvo, K.R., Lemieux, J.E., Patel, S.Y., Frucht, D.M., Vinh, D.C., Auth, R.D., Freeman, A.F., Olivier, K.N., Uzel, G., Zerbe, C.S., Spalding, C., Pittaluga, S.,  et al.(2011)  Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC)  syndrome.  <i>Blood<\/i>, 118, 2653-2655.","DOI":"10.1182\/blood-2011-05-356352"},{"key":"8","doi-asserted-by":"crossref","unstructured":"Kofoed, E.M., Hwa, V., Little, B., Woods, K.A., Buckway, C.K., Tsubaki, J., Pratt, K.L., Bezrodnik, L., Jasper, H., Tepper, A., Heinrich, J.J. &amp; Rosenfeld, R.G.(2003)  Growth hormone insensitivity associated with a STAT5b mutation.  <i>N. Engl. J. Med<\/i>., 349, 1139-1147.","DOI":"10.1056\/NEJMoa022926"},{"key":"9","doi-asserted-by":"crossref","unstructured":"Notarangelo, L., Casanova, J.L., Fischer, A., Puck, J., Rosen, F.,  Seger, R. &amp; Geha, R.; International Union of Immunological Societies Primary Immunodeficiency diseases classification committee (2004)  Primary immunodeficiency diseases: an update.  <i>J. Allergy Clin. Immunol<\/i>., 114, 677-687.","DOI":"10.1016\/j.jaci.2004.06.044"},{"key":"10","doi-asserted-by":"crossref","unstructured":"Pham, H.T.T., Maurer, B., Prchal-Murphy, M., Grausenburger, R., Grundschober, E., Javaheri, T., Nivarthi, H., Boersma, A., Kolbe, T., Elabd, M., Halbritter, F., Pencik, J., Kazemi, Z., Grebien, F., Hengstschl\u00e4ger, M.,  et al.(2018)  STAT5BN642H is a driver mutation for T cell neoplasia.  <i>J. Clin. Invest<\/i>., 128, 387-401.","DOI":"10.1172\/JCI94509"},{"key":"11","doi-asserted-by":"crossref","unstructured":"Rodrigues, N.P., Janzen, V., Forkert, R., Dombkowski, D.M., Boyd, A.S., Orkin, S.H., Enver, T., Vyas, P. &amp; Scadden, D.T.(2005)  Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis.  <i>Blood<\/i>, 106, 477-484.","DOI":"10.1182\/blood-2004-08-2989"}],"container-title":["The Tohoku Journal of Experimental Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/tjem\/255\/2\/255_143\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T04:47:13Z","timestamp":1715143633000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/tjem\/255\/2\/255_143\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.1620\/tjem.255.143","relation":{},"ISSN":["0040-8727","1349-3329"],"issn-type":[{"value":"0040-8727","type":"print"},{"value":"1349-3329","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]}}}