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Page 1
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.
Materna M, Delmonte OM, Bosticardo M, Momenilandi M, Conrey PE, Charmeteau-De Muylder B, Bravetti C, Bellworthy R, Cederholm A, Staels F, Ganoza CA, Darko S, Sayed S, Le Floc'h C, Ogishi M, Rinchai D, Guenoun A, Bolze A, Khan T, Gervais A, Krüger R, Völler M, Palterer B, Sadeghi-Shabestari M, Langlois de Septenville A, Schramm CA, Shah S, Tello-Cajiao JJ, Pala F, Amini K, Campos JS, Lima NS, Eriksson D, Lévy R, Seeleuthner Y, Jyonouchi S, Ata M, Al Ali F, Stittrich A, Deswarte C, Pereira A, Mégret J, Le Voyer T, Bastard P, Berteloot L, Dussiot M, Vladikine N, Cardenas PP, Jouanguy E, Alqahtani M, Hasan A, Thanaraj TA, Rosain J, Al Qureshah F, Sabato V, Alyanakian MA, Leruez-Ville M, Rozenberg F, Haddad E, Regueiro JR, Toribio ML, Kelsen JR, Salehi M, Nasiri S, Torabizadeh M, Rokni-Zadeh H, Changi-Ashtiani M, Vatandoost N, Moravej H, Akrami SM, Mazloomrezaei M, Cobat A, Meyts I, Toyofuku E, Nishimura M, Moriya K, Mizukami T, Imai K, Abel L, Malissen B, Al-Mulla F, Alkuraya FS, Parvaneh N, von Bernuth H, Beetz C, Davi F, Douek DC, Cheynier R, Langlais D, Landegren N, Marr N, Morio T, Shahrooei M, Schrijvers R, Henrickson SE, Luche H, Notarangelo LD, Casanova JL, Béziat V. Materna M, et al. Among authors: toyofuku e. Science. 2024 Mar;383(6686):eadh4059. doi: 10.1126/science.adh4059. Epub 2024 Mar 1. Science. 2024. PMID: 38422122 Free PMC article.
A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis.
Sakura F, Noma K, Asano T, Tanita K, Toyofuku E, Kato K, Tsumura M, Nihira H, Izawa K, Mitsui-Sekinaka K, Konno R, Kawashima Y, Mizoguchi Y, Karakawa S, Hayakawa S, Kawaguchi H, Imai K, Nonoyama S, Yasumi T, Ohnishi H, Kanegane H, Ohara O, Okada S. Sakura F, et al. Among authors: toyofuku e. PNAS Nexus. 2023 Mar 28;2(4):pgad104. doi: 10.1093/pnasnexus/pgad104. eCollection 2023 Apr. PNAS Nexus. 2023. PMID: 37077884 Free PMC article.
An adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa.
Niwano T, Hosoya T, Kadowaki S, Toyofuku E, Naruto T, Shimizu M, Ohnishi H, Koike R, Morio T, Imai K, Yoshida M, Yasuda S. Niwano T, et al. Among authors: toyofuku e. Rheumatology (Oxford). 2022 Nov 2;61(11):e337-e340. doi: 10.1093/rheumatology/keac308. Rheumatology (Oxford). 2022. PMID: 35595232 No abstract available.
Dysregulation of the Intestinal Microbiome in Patients With Haploinsufficiency of A20.
Toyofuku E, Takeshita K, Ohnishi H, Kiridoshi Y, Masuoka H, Kadowaki T, Nishikomori R, Nishimura K, Kobayashi C, Ebato T, Shigemura T, Inoue Y, Suda W, Hattori M, Morio T, Honda K, Kanegane H. Toyofuku E, et al. Front Cell Infect Microbiol. 2022 Jan 28;11:787667. doi: 10.3389/fcimb.2021.787667. eCollection 2021. Front Cell Infect Microbiol. 2022. PMID: 35155270 Free PMC article.
Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.
Hoshino A, Toyofuku E, Mitsuiki N, Yamashita M, Okamoto K, Yamamoto M, Kanda K, Yamato G, Keino D, Yoshimoto-Suzuki Y, Kamizono J, Onoe Y, Ichimura T, Nagao M, Yoshimura M, Tsugawa K, Igarashi T, Mitsui-Sekinaka K, Sekinaka Y, Doi T, Yasumi T, Nakazawa Y, Takagi M, Imai K, Nonoyama S, Morio T, Latour S, Kanegane H. Hoshino A, et al. Among authors: toyofuku e. Front Immunol. 2022 Jan 11;12:784901. doi: 10.3389/fimmu.2021.784901. eCollection 2021. Front Immunol. 2022. PMID: 35087518 Free PMC article.
Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.
Okano T, Imai K, Naruto T, Okada S, Yamashita M, Yeh TW, Ono S, Tanaka K, Okamoto K, Tanita K, Matsumoto K, Toyofuku E, Kumaki-Matsumoto E, Okamura M, Ueno H, Ogawa S, Ohara O, Takagi M, Kanegane H, Morio T. Okano T, et al. Among authors: toyofuku e. J Clin Immunol. 2020 Jul;40(5):729-740. doi: 10.1007/s10875-020-00798-3. Epub 2020 Jun 6. J Clin Immunol. 2020. PMID: 32506361
13 results