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Page 1
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.
Rosain J, Le Voyer T, Liu X, Gervais A, Polivka L, Cederholm A, Berteloot L, Parent AV, Pescatore A, Spinosa E, Minic S, Kiszewski AE, Tsumura M, Thibault C, Esnaola Azcoiti M, Martinovic J, Philippot Q, Khan T, Marchal A, Charmeteau-De Muylder B, Bizien L, Deswarte C, Hadjem L, Fauvarque MO, Dorgham K, Eriksson D, Falcone EL, Puel M, Ünal S, Geraldo A, Le Floc'h C, Li H, Rheault S, Muti C, Bobrie-Moyrand C, Welfringer-Morin A, Fuleihan RL, Lévy R, Roelens M, Gao L, Materna M, Pellegrini S, Piemonti L, Catherinot E, Goffard JC, Fekkar A, Sacko-Sow A, Soudée C, Boucherit S, Neehus AL, Has C, Hübner S, Blanchard-Rohner G, Amador-Borrero B, Utsumi T, Taniguchi M, Tani H, Izawa K, Yasumi T, Kanai S, Migaud M, Aubart M, Lambert N, Gorochov G, Picard C, Soudais C, L'Honneur AS, Rozenberg F, Milner JD, Zhang SY, Vabres P, Trpinac D, Marr N, Boddaert N, Desguerre I, Pasparakis M, Miller CN, Poziomczyk CS, Abel L, Okada S, Jouanguy E, Cheynier R, Zhang Q, Cobat A, Béziat V, Boisson B, Steffann J, Fusco F, Ursini MV, Hadj-Rabia S, Bodemer C, Bustamante J, Luche H, Puel A, Courtois G, Bastard P, Landegren N, Anderson MS, Casanova JL. Rosain J, et al. Among authors: izawa k. J Exp Med. 2024 Nov 4;221(11):e20231152. doi: 10.1084/jem.20231152. Epub 2024 Oct 1. J Exp Med. 2024. PMID: 39352576 Free PMC article.
Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation.
Imamura M, Kawai T, Okada S, Izawa K, Takachi T, Iwabuchi H, Yoshida S, Hosokai R, Kanegane H, Yamamoto T, Umezu H, Nishikomori R, Heike T, Uchiyama M, Imai C. Imamura M, et al. Among authors: izawa k. J Clin Immunol. 2011 Oct;31(5):802-10. doi: 10.1007/s10875-011-9568-9. Epub 2011 Jul 14. J Clin Immunol. 2011. PMID: 21755389
Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
Kawai T, Nishikomori R, Izawa K, Murata Y, Tanaka N, Sakai H, Saito M, Yasumi T, Takaoka Y, Nakahata T, Mizukami T, Nunoi H, Kiyohara Y, Yoden A, Murata T, Sasaki S, Ito E, Akutagawa H, Kawai T, Imai C, Okada S, Kobayashi M, Heike T. Kawai T, et al. Among authors: izawa k. Blood. 2012 Jun 7;119(23):5458-66. doi: 10.1182/blood-2011-05-354167. Epub 2012 Apr 19. Blood. 2012. PMID: 22517901 Free article.
Reply to Walsh et al.
Kawai T, Hiejima E, Oda H, Izawa K, Yasumi T, Nishikomori R, Okamoto S, Heike T. Kawai T, et al. Among authors: izawa k. Eur J Hum Genet. 2017 Aug;25(8):907. doi: 10.1038/ejhg.2016.192. Epub 2017 Jan 4. Eur J Hum Genet. 2017. PMID: 28051076 Free PMC article. No abstract available.
A Case with Spondyloenchondrodysplasia Treated with Growth Hormone.
Utsumi T, Okada S, Izawa K, Honda Y, Nishimura G, Nishikomori R, Okano R, Kobayashi M. Utsumi T, et al. Among authors: izawa k. Front Endocrinol (Lausanne). 2017 Jul 10;8:157. doi: 10.3389/fendo.2017.00157. eCollection 2017. Front Endocrinol (Lausanne). 2017. PMID: 28740483 Free PMC article.
Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.
Ono S, Nakayama M, Kanegane H, Hoshino A, Shimodera S, Shibata H, Fujino H, Fujino T, Yunomae Y, Okano T, Yamashita M, Yasumi T, Izawa K, Takagi M, Imai K, Zhang K, Marsh R, Picard C, Latour S, Ohara O, Morio T. Ono S, et al. Among authors: izawa k. Int J Hematol. 2018 Sep;108(3):319-328. doi: 10.1007/s12185-018-2475-6. Epub 2018 May 18. Int J Hematol. 2018. PMID: 29777376
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.
Boisson B, Honda Y, Ajiro M, Bustamante J, Bendavid M, Gennery AR, Kawasaki Y, Ichishima J, Osawa M, Nihira H, Shiba T, Tanaka T, Chrabieh M, Bigio B, Hur H, Itan Y, Liang Y, Okada S, Izawa K, Nishikomori R, Ohara O, Heike T, Abel L, Puel A, Saito MK, Casanova JL, Hagiwara M, Yasumi T. Boisson B, et al. Among authors: izawa k. J Clin Invest. 2019 Feb 1;129(2):583-597. doi: 10.1172/JCI124011. Epub 2018 Dec 18. J Clin Invest. 2019. PMID: 30422821 Free PMC article.
Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells.
Rodriguez R, Fournier B, Cordeiro DJ, Winter S, Izawa K, Martin E, Boutboul D, Lenoir C, Fraitag S, Kracker S, Watts TH, Picard C, Bruneau J, Callebaut I, Fischer A, Neven B, Latour S. Rodriguez R, et al. Among authors: izawa k. J Exp Med. 2019 Dec 2;216(12):2800-2818. doi: 10.1084/jem.20190678. Epub 2019 Sep 19. J Exp Med. 2019. PMID: 31537641 Free PMC article.
570 results