Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity Y Minegishi, M Saito, T Morio, K Watanabe, K Agematsu, S Tsuchiya, ... Immunity 25 (5), 745-755, 2006 | 815 | 2006 |
Human uracil–DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination K Imai, G Slupphaug, WI Lee, P Revy, S Nonoyama, N Catalan, L Yel, ... Nature immunology 4 (10), 1023-1028, 2003 | 754 | 2003 |
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: a large patient cohort study TI Coulter, A Chandra, CM Bacon, J Babar, J Curtis, N Screaton, ... Journal of Allergy and Clinical Immunology 139 (2), 597-606. e4, 2017 | 562 | 2017 |
Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ... Science immunology 6 (62), eabl4340, 2021 | 488 | 2021 |
Clinical course of patients with WASP gene mutations K Imai, T Morio, Y Zhu, Y Jin, S Itoh, M Kajiwara, J Yata, S Mizutani, ... Blood 103 (2), 456-464, 2004 | 466 | 2004 |
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects C Schwab, A Gabrysch, P Olbrich, V Patiño, K Warnatz, D Wolff, ... Journal of Allergy and Clinical Immunology 142 (6), 1932-1946, 2018 | 402 | 2018 |
AID mutant analyses indicate requirement for class-switch-specific cofactors VT Ta, H Nagaoka, N Catalan, A Durandy, A Fischer, K Imai, S Nonoyama, ... Nature immunology 4 (9), 843-848, 2003 | 389 | 2003 |
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: a cohort study E Elkaim, B Neven, J Bruneau, K Mitsui-Sekinaka, A Stanislas, L Heurtier, ... Journal of Allergy and Clinical Immunology 138 (1), 210-218. e9, 2016 | 383 | 2016 |
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19 T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ... Science immunology 6 (62), eabl4348, 2021 | 362 | 2021 |
Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients R Kihara, Y Nagata, H Kiyoi, T Kato, E Yamamoto, K Suzuki, F Chen, ... Leukemia 28 (8), 1586-1595, 2014 | 317 | 2014 |
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options MH Albert, TC Bittner, S Nonoyama, LD Notarangelo, S Burns, K Imai, ... Blood, The Journal of the American Society of Hematology 115 (16), 3231-3238, 2010 | 242 | 2010 |
Sex-specific relevance of diabetes to occlusive vascular and other mortality: a collaborative meta-analysis of individual data from 980 793 adults from 68 prospective studies L Gnatiuc, WG Herrington, J Halsey, J Tuomilehto, X Fang, HC Kim, ... The lancet Diabetes & endocrinology 6 (7), 538-546, 2018 | 214 | 2018 |
WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype K Imai, S Nonoyama, HD Ochs Current opinion in allergy and clinical immunology 3 (6), 427-436, 2003 | 169 | 2003 |
Hyper-IgM syndrome type 4 with a B lymphocyte–intrinsic selective deficiency in Ig class-switch recombination K Imai, N Catalan, A Plebani, L Maródi, Ö Sanal, S Kumaki, V Nagendran, ... The Journal of clinical investigation 112 (1), 136-142, 2003 | 165 | 2003 |
Molecular and virological evidence of viral activation from chromosomally integrated human herpesvirus 6A in a patient with X-linked severe combined immunodeficiency A Endo, K Watanabe, T Ohye, K Suzuki, T Matsubara, N Shimizu, ... Clinical Infectious Diseases 59 (4), 545-548, 2014 | 158 | 2014 |
Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency C Wehr, AR Gennery, C Lindemans, A Schulz, M Hoenig, R Marks, ... Journal of Allergy and Clinical Immunology 135 (4), 988-997. e6, 2015 | 153 | 2015 |
Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations JW Leiding, S Okada, D Hagin, M Abinun, A Shcherbina, DN Balashov, ... Journal of Allergy and Clinical Immunology 141 (2), 704-717. e5, 2018 | 149 | 2018 |
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies J Manry, P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, ... Proceedings of the National Academy of Sciences 119 (21), 2022 | 147 | 2022 |
Repair of U/G and U/A in DNA by UNG2-associated repair complexes takes place predominantly by short-patch repair both in proliferating and growth-arrested cells M Akbari, M Otterlei, J Pena-Diaz, PA Aas, B Kavli, NB Liabakk, L Hagen, ... Nucleic acids research 32 (18), 5486-5498, 2004 | 141 | 2004 |
Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards Y Morinishi, K Imai, N Nakagawa, H Sato, K Horiuchi, Y Ohtsuka, ... The Journal of pediatrics 155 (6), 829-833, 2009 | 138 | 2009 |