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Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14522-1
By:
- Rawat, Amit;
- Sharma, Madhubala;
- Vignesh, Pandiarajan;
- Jindal, Ankur Kumar;
- Suri, Deepti;
- Das, Jhumki;
- Joshi, Vibhu;
- Tyagi, Rahul;
- Sharma, Jyoti;
- Kaur, Gurjit;
- Lau, Yu-Lung;
- Imai, Kohsuke;
- Nonoyama, Shigeaki;
- Lenardo, Michael;
- Singh, Surjit
Publication type:
Article
Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-08019-0
By:
- Rawat, Amit;
- Tyagi, Rahul;
- Chaudhary, Himanshi;
- Pandiarajan, Vignesh;
- Jindal, Ankur Kumar;
- Suri, Deepti;
- Gupta, Anju;
- Sharma, Madhubala;
- Arora, Kanika;
- Bal, Amanjit;
- Madaan, Priyanka;
- Saini, Lokesh;
- Sahu, Jitendra Kumar;
- Ogura, Yumi;
- Kato, Tamaki;
- Imai, Kohsuke;
- Nonoyama, Shigeaki;
- Singh, Surjit
Publication type:
Article
HLA haploidentical hematopoietic cell transplantation using clofarabine and busulfan for refractory pediatric hematological malignancy.
Published in:
2017
By:
- Takagi, Masatoshi;
- Ishiwata, Yasuyoshi;
- Aoki, Yuki;
- Miyamoto, Satoshi;
- Hoshino, Akihiro;
- Matsumoto, Kazuaki;
- Nishimura, Akira;
- Tanaka, Mari;
- Yanagimachi, Masakatsu;
- Mitsuiki, Noriko;
- Imai, Kohsuke;
- Kanegane, Hirokazu;
- Kajiwara, Michiko;
- Takikawa, Kanako;
- Mae, Tsukasa;
- Tomita, Osamu;
- Fujimura, Junya;
- Yasuhara, Masato;
- Tomizawa, Daisuke;
- Mizutani, Shuki
Publication type:
journal article
Mutations in Bruton's tyrosine kinase impair IgA responses.
Published in:
International Journal of Hematology, 2015, v. 101, n. 3, p. 305, doi. 10.1007/s12185-015-1732-1
By:
- Mitsuiki, Noriko;
- Yang, Xi;
- Bartol, Sophinus;
- Grosserichter-Wagener, Christina;
- Kosaka, Yoshiyuki;
- Takada, Hidetoshi;
- Imai, Kohsuke;
- Kanegane, Hirokazu;
- Mizutani, Shuki;
- Burg, Mirjam;
- Zelm, Menno;
- Ohara, Osamu;
- Morio, Tomohiro
Publication type:
Article
Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis.
Published in:
2012
By:
- Nakaoka, Hideyuki;
- Kanegane, Hirokazu;
- Taneichi, Hiromichi;
- Miya, Kazushi;
- Yang, Xi;
- Nomura, Keiko;
- Takezaki, Shunichiro;
- Yamada, Masafumi;
- Ohara, Osamu;
- Kamae, Chikako;
- Imai, Kohsuke;
- Nonoyama, Shigeaki;
- Wada, Taizo;
- Yachie, Akihiro;
- Hershfield, Michael;
- Ariga, Tadashi;
- Miyawaki, Toshio
Publication type:
Report
Evans syndrome in a patient with Langerhans cell histiocytosis: possible pathogenesis of autoimmunity in LCH.
Published in:
2008
By:
- Tsuji, Yoichiro;
- Kogawa, Kazuhiro;
- Imai, Kohsuke;
- Kanegane, Hirokazu;
- Fujimoto, Junichiro;
- Nonoyama, Shigeaki
Publication type:
journal article
Intracranial residual lesions following early intensification in a patient with T-cell acute lymphoblastic leukemia: a case report.
Published in:
2024
By:
- Nagamatsu, Yuichi;
- Isoda, Takeshi;
- Inaji, Motoki;
- Oyama, Jun;
- Niizato, Daiki;
- Tomomasa, Dan;
- Mitsuiki, Noriko;
- Yamashita, Motoi;
- Kamiya, Takahiro;
- Imai, Kohsuke;
- Kanegane, Hirokazu;
- Morio, Tomohiro;
- Takagi, Masatoshi
Publication type:
Case Study
Wiskott–Aldrich syndrome that was initially diagnosed as immune thrombocytopenic purpura secondary to a cytomegalovirus infection.
Published in:
SAGE Open Medical Case Reports, 2018, v. 6, p. 1, doi. 10.1177/2050313X17753788
By:
- Kaneko, Ryota;
- Yamamoto, Shohei;
- Okamoto, Naoko;
- Akiyama, Kosuke;
- Matsuno, Ryosuke;
- Toyama, Daisuke;
- Hoshino, Akihiro;
- Imai, Kohsuke;
- Isoyama, Keiichi
Publication type:
Article
Congenital heterozygous protein C deficiency with portal vein thrombosis.
Published in:
2023
By:
- Hirose, Fumi;
- Sekinaka, Yujin;
- Matsumoto, Shinya;
- Imai, Kohsuke;
- Ohga, Shouichi;
- Nonoyama, Shigeaki;
- Kawaguchi, Hiroyuki
Publication type:
Case Study
A case of suspected lupus anticoagulant‐hypoprothrombinemia syndrome in a boy due to mycoplasma infection.
Published in:
2023
By:
- Mabuchi, Haruna;
- Moriya, Kunihiko;
- Hoshino, Yuki;
- Take, Junya;
- Kawaguchi, Hiroyuki;
- Imai, Kohsuke
Publication type:
Case Study
Transient immune deficiency accompanied with homozygous CBL rare variant.
Published in:
Pediatrics International, 2023, v. 65, n. 1, p. 1, doi. 10.1111/ped.15439
By:
- Morishita, Aoi;
- Yeh, Tzu‐Wen;
- Tomari, Kouki;
- Furuichi, Mihoko;
- Kashimada, Kenichi;
- Morio, Tomohiro;
- Takagi, Masatoshi;
- Imai, Kohsuke
Publication type:
Article
Disseminated fusariosis in a child after haploidentical hematopoietic stem cell transplantation.
Published in:
2020
By:
- Hoshino, Akihiro;
- Tokoro, Shown;
- Akashi, Takumi;
- Inoue, Maiko;
- Takagi, Masatoshi;
- Imai, Kohsuke;
- Kanegane, Hirokazu;
- Muraosa, Yasunori;
- Kamei, Katsuhiko;
- Morio, Tomohiro
Publication type:
Case Study
Fatal idiopathic pneumonia syndrome in Artemis deficiency.
Published in:
2019
By:
- Hayase, Tomomi;
- Ikeda, Takahiro;
- Yoshimoto, Taichiro;
- Imai, Kohsuke;
- Morimoto, Akira
Publication type:
Case Study
Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.
Published in:
Pediatrics International, 2016, v. 58, n. 10, p. 1076, doi. 10.1111/ped.13070
By:
- Sato, Takeshi;
- Okano, Tsubasa;
- Tanaka‐Kubota, Mari;
- Kimura, Shunsuke;
- Miyamoto, Satoshi;
- Ono, Shintaro;
- Yamashita, Motoi;
- Mitsuiki, Noriko;
- Takagi, Masatoshi;
- Imai, Kohsuke;
- Kajiwara, Michiko;
- Ebato, Takasuke;
- Ogata, Shohei;
- Oda, Hirotsugu;
- Ohara, Osamu;
- Kanegane, Hirokazu;
- Morio, Tomohiro
Publication type:
Article
Transient abnormal myelopoiesis in non- Down syndrome neonate.
Published in:
Pediatrics International, 2015, v. 57, n. 1, p. e14, doi. 10.1111/ped.12500
By:
- Ohkawa, Teppei;
- Miyamoto, Satoshi;
- Sugie, Manabu;
- Tomizawa, Daisuke;
- Imai, Kohsuke;
- Nagasawa, Masayuki;
- Morio, Tomohiro;
- Mizutani, Shuki;
- Takagi, Masatoshi
Publication type:
Article
Pneumothorax in patients with severe combined immunodeficiency.
Published in:
Pediatrics International, 2014, v. 56, n. 4, p. 510, doi. 10.1111/ped.12325
By:
- Hoshino, Akihiro;
- Imai, Kohsuke;
- Ohshima, Yusei;
- Yasutomi, Motoko;
- Kasai, Masashi;
- Terai, Masaru;
- Ishigaki, Keiko;
- Morio, Tomohiro;
- Miyawaki, Toshio;
- Kanegane, Hirokazu
Publication type:
Article
Hyper-eosinophilia in granular acute B-cell lymphoblastic leukemia with myeloid antigen expression.
Published in:
Pediatrics International, 2012, v. 54, n. 4, p. 543, doi. 10.1111/j.1442-200X.2011.03471.x
By:
- Kobayashi, Daisuke;
- Kogawa, Kazuhiro;
- Imai, Kohsuke;
- Tanaka, Toshio;
- Sada, Akiko;
- Nonoyama, Shigeaki
Publication type:
Article
Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I.
Published in:
Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1020362
By:
- Motoi Yamashita;
- Shiori Eguchi;
- Dan Tomomasa;
- Takahiro Kamiya;
- Daiki Niizato;
- Noriko Mitsuiki;
- Takeshi Isoda;
- Hanako Funakoshi;
- Yuki Mizuno;
- Kentaro Okamoto;
- Tuan Minh Nguyen;
- Hidetoshi Takada;
- Masatoshi Takagi;
- Kohsuke Imai;
- Tomohiro Morio;
- Hirokazu Kanegane
Publication type:
Article
Case Report: A Pediatric Case of Familial Mediterranean Fever Concurrent With Autoimmune Hepatitis.
Published in:
Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.917398
By:
- Aoki, Mariko;
- Izawa, Kazushi;
- Tanaka, Takayuki;
- Honda, Yoshitaka;
- Shiba, Takeshi;
- Maeda, Yukako;
- Miyamoto, Takayuki;
- Okamoto, Keisuke;
- Nishitani-Isa, Masahiko;
- Nihira, Hiroshi;
- Imai, Kohsuke;
- Takita, Junko;
- Nishikomori, Ryuta;
- Hiejima, Eitaro;
- Yasumi, Takahiro
Publication type:
Article
Case Report: Rotavirus Vaccination and Severe Combined Immunodeficiency in Japan.
Published in:
Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.786375
By:
- Tanita, Kay;
- Kawamura, Yoshiki;
- Miura, Hiroki;
- Mitsuiki, Noriko;
- Tomoda, Takahiro;
- Inoue, Kento;
- Iguchi, Akihiro;
- Yamada, Masafumi;
- Yoshida, Taro;
- Muramatsu, Hideki;
- Tada, Norimasa;
- Matsui, Toshihiro;
- Kato, Motohiro;
- Eguchi, Katsuhide;
- Ishimura, Masataka;
- Ohga, Shouichi;
- Imai, Kohsuke;
- Morio, Tomohiro;
- Yoshikawa, Tetsushi;
- Kanegane, Hirokazu
Publication type:
Article
The Primary Immunodeficiency Database in Japan.
Published in:
Frontiers in Immunology, 2022, v. 12, p. 1, doi. 10.3389/fimmu.2021.805766
By:
- Mitsui-Sekinaka, Kanako;
- Sekinaka, Yujin;
- Endo, Akifumi;
- Imai, Kohsuke;
- Nonoyama, Shigeaki
Publication type:
Article
RAPID: Resource of Asian Primary Immunodeficiency Diseases.
Published in:
Nucleic Acids Research, 2009, v. 37, n. suppl_1, p. D863, doi. 10.1093/nar/gkn682
By:
- Keerthikumar, Shivakumar;
- Raju, Rajesh;
- Kandasamy, Kumaran;
- Hijikata, Atsushi;
- Ramabadran, Subhashri;
- Balakrishnan, Lavanya;
- Ahmed, Mukhtar;
- Rani, Sandhya;
- Selvan, Lakshmi Dhevi N.;
- Somanathan, Devi S.;
- Ray, Somak;
- Bhattacharjee, Mitali;
- Gollapudi, Sashikanth;
- Ramachandra, Y. L.;
- Bhadra, Sahely;
- Bhattacharyya, Chiranjib;
- Imai, Kohsuke;
- Nonoyama, Shigeaki;
- Kanegane, Hirokazu;
- Miyawaki, Toshio
Publication type:
Article
High‐throughput analysis revealed the unique immunoglobulin gene rearrangements in plasmacytoma‐like post‐transplant lymphoproliferative disorder.
Published in:
British Journal of Haematology, 2020, v. 189, n. 4, p. e164, doi. 10.1111/bjh.16583
By:
- Hoshino, Akihiro;
- Nishimura, Akira;
- Naruto, Takuya;
- Okano, Tsubasa;
- Matsumoto, Kazuaki;
- Okamoto, Keisuke;
- Shintaku, Hiroshi;
- Tokoro, Shown;
- Okamoto, Hiroyuki;
- Wada, Taizo;
- Takagi, Masatoshi;
- Imai, Kohsuke;
- Kanegane, Hirokazu;
- Morio, Tomohiro
Publication type:
Article
Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome.
Published in:
Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00568
By:
- Asano, Takaki;
- Okada, Satoshi;
- Tsumura, Miyuki;
- Yeh, Tzu-Wen;
- Mitsui-Sekinaka, Kanako;
- Tsujita, Yuki;
- Ichinose, Youjiro;
- Shimada, Akira;
- Hashimoto, Kunio;
- Wada, Taizo;
- Imai, Kohsuke;
- Ohara, Osamu;
- Morio, Tomohiro;
- Nonoyama, Shigeaki;
- Kobayashi, Masao
Publication type:
Article
Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1.
Published in:
Allergy, Asthma & Clinical Immunology, 2018, v. 14, n. 1, p. N.PAG, doi. 10.1186/s13223-018-0306-1
By:
- Tamura, Akihiro;
- Uemura, Suguru;
- Yamamoto, Nobuyuki;
- Saito, Atsuro;
- Kozaki, Aiko;
- Kishimoto, Kenji;
- Ishida, Toshiaki;
- Hasegawa, Daiichiro;
- Hiroki, Haruka;
- Okano, Tsubasa;
- Imai, Kohsuke;
- Morio, Tomohiro;
- Kanegane, Hirokazu;
- Kosaka, Yoshiyuki
Publication type:
Article
Characterization of the γc chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).
Published in:
Human Genetics, 2000, v. 107, n. 4, p. 406, doi. 10.1007/s004390000381
By:
- Kumaki, Satoru;
- Ishii, Naoto;
- Minegishi, Masayoshi;
- Ohashi, Yoshiyuki;
- Hakozaki, Ikuko;
- Nonoyama, Shigeaki;
- Imai, Kohsuke;
- Morio, Tomohiro;
- Tsuge, Ikuya;
- Sakiyama, Yukio;
- Miyanoshita, Akihiko;
- Miura, Jun-ichi;
- Mayumi, Mitsuhumi;
- Heike, Toshio;
- Katamura, Kenji;
- Takada, Hidetoshi;
- Izumi, Isho;
- Kamizono, Junji;
- Hibi, Shigeyoshi;
- Sasaki, Hiroshi
Publication type:
Article
Allogeneic hematopoietic stem cell transplantation for Chediak- Higashi syndrome.
Published in:
Pediatric Transplantation, 2016, v. 20, n. 2, p. 271, doi. 10.1111/petr.12626
By:
- Umeda, Katsutsugu;
- Adachi, Souichi;
- Horikoshi, Yasuo;
- Imai, Kohsuke;
- Terui, Kiminori;
- Endo, Mikiya;
- Mitsui, Tetsuo;
- Kato, Keisuke;
- Koh, Katsuyoshi;
- Kajiwara, Ryosuke;
- Ito, Rieko;
- Otsuka, Yoshitoshi;
- Inoue, Masami;
- Ishii, Eiichi;
- Yabe, Hiromasa
Publication type:
Article
Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency.
Published in:
Pediatric Transplantation, 2013, v. 17, n. 1, p. E29, doi. 10.1111/j.1399-3046.2012.01762.x
By:
- Kanegane, Hirokazu;
- Taneichi, Hiromichi;
- Nomura, Keiko;
- Wada, Taizo;
- Yachie, Akihiro;
- Imai, Kohsuke;
- Ariga, Tadashi;
- Santisteban, Ines;
- Hershfield, Michael S.;
- Miyawaki, Toshio
Publication type:
Article
Hemophagocytosis after bone marrow transplantation for JAK3-deficient severe combined immunodeficiency.
Published in:
Pediatric Transplantation, 2010, v. 14, n. 8, p. E105, doi. 10.1111/j.1399-3046.2009.01217.x
By:
- Hashii, Yoshiko;
- Yoshida, Hisao;
- Kuroda, Sato;
- Kusuki, Shigenori;
- Sato, Emiko;
- Tokimasa, Sadao;
- Ohta, Hideaki;
- Matsubara, Yasutaka;
- Kinoshita, Seiji;
- Nakagawa, Noriko;
- Imai, Kohsuke;
- Nonoyama, Shigeaki;
- Oshima, Koichi;
- Ohara, Osamu;
- Ozono, Keiichi
Publication type:
Article
Hematopoietic Cell Transplantation for Chronic Granulomatous Disease in Japan.
Published in:
Frontiers in Immunology, 2020, v. 11, p. 1, doi. 10.3389/fimmu.2020.01617
By:
- Yanagimachi, Masakatsu;
- Kato, Koji;
- Iguchi, Akihiro;
- Sasaki, Koji;
- Kiyotani, Chikako;
- Koh, Katsuyoshi;
- Koike, Takashi;
- Sano, Hideki;
- Shigemura, Tomonari;
- Muramatsu, Hideki;
- Okada, Keiko;
- Inoue, Masami;
- Tabuchi, Ken;
- Nishimura, Toyoki;
- Mizukami, Tomoyuki;
- Nunoi, Hiroyuki;
- Imai, Kohsuke;
- Kobayashi, Masao;
- Morio, Tomohiro
Publication type:
Article
Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects.
Published in:
Immunological Reviews, 2005, v. 203, n. 1, p. 67, doi. 10.1111/j.0105-2896.2005.00222.x
By:
- Durandy, Anne;
- Revy, Patrick;
- Imai, Kohsuke;
- Fischer, Alain
Publication type:
Article
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.
Published in:
Nucleic Acids Research, 2004, v. 32, n. 18, p. 5486, doi. 10.1093/nar/gkh872
By:
- Akbari, Mansour;
- Otterlei, Marit;
- Peña-Diaz, Javier;
- Aas, Per Arne;
- Kavli, Bodil;
- Liabakk, Nina B.;
- Hagen, Lars;
- Imai, Kohsuke;
- Durandy, Anne;
- Slupphaug, Geir;
- Krokan, Hans E.
Publication type:
Article
Effect of reduced-intensity conditioning and the risk of late-onset non-infectious pulmonary complications in pediatric patients.
Published in:
European Journal of Haematology, 2017, v. 99, n. 6, p. 525, doi. 10.1111/ejh.12967
By:
- Nagasawa, Masayuki;
- Mitsuiki, Noriko;
- Aoki, Yuki;
- Ono, Toshiaki;
- Isoda, Takeshi;
- Imai, Kohsuke;
- Takagi, Masatoshi;
- Kajiwara, Michiko;
- Kanegane, Hirokazu;
- Morio, Tomohiro
Publication type:
Article
A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura.
Published in:
European Journal of Haematology, 2013, v. 90, n. 2, p. 164, doi. 10.1111/ejh.12057
By:
- Kawasaki, Yukako;
- Toyoda, Hidemi;
- Otsuki, Shoichiro;
- Iwasa, Tadashi;
- Iwamoto, Shotaro;
- Azuma, Eiichi;
- Itoh‐Habe, Naomi;
- Wada, Hideo;
- Fujimura, Yoshihiro;
- Morio, Tomohiro;
- Imai, Kohsuke;
- Mitsuiki, Noriko;
- Ohara, Osamu;
- Komada, Yoshihiro
Publication type:
Article
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.
Published in:
Nature Immunology, 2003, v. 4, n. 10, p. 1023, doi. 10.1038/ni974
By:
- Imai, Kohsuke;
- Slupphaug, Geir;
- Wen-I Lee;
- Revy, Patrick;
- Nonoyama, Shigeaki;
- Catalan, Nadia;
- Yel, Leman;
- Forveille, Monique;
- kavli, Bodil;
- Krokan, Hans E.;
- Ochs, Hans D.;
- Fischer, Alain;
- Durandy, Anne
Publication type:
Article
AID mutant analyses indicate requirement for class-switch-specific cofactors.
Published in:
Nature Immunology, 2003, v. 4, n. 9, p. 843, doi. 10.1038/ni964
By:
- Van-Thanh Ta;
- Hitoshi Nagaoka;
- Nadia Catalan;
- Anne Durandy;
- Alain Fischer;
- Kohsuke Imai;
- Shigeaki Nonoyama;
- Junko Tashiro;
- Masaya Ikegawa;
- Satomi Ito;
- Kazuo Kinoshita;
- Masamichi Muramatsu;
- Tasuku Honjo
Publication type:
Article
Successful ruxolitinib administration for a patient with steroid‐refractory idiopathic pneumonia syndrome following hematopoietic stem cell transplantation: A case report and literature review.
Published in:
2021
By:
- Tomomasa, Dan;
- Isoda, Takeshi;
- Mitsuiki, Noriko;
- Yamashita, Motoi;
- Morishita, Aoi;
- Tomoda, Takahiro;
- Okano, Tsubasa;
- Endo, Akifumi;
- Kamiya, Takahiro;
- Yanagimachi, Masakatsu;
- Imai, Kohsuke;
- Kanegane, Hirokazu;
- Takagi, Masatoshi;
- Morio, Tomohiro
Publication type:
Case Study
An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report.
Published in:
2021
By:
- Toyohara, Miwako;
- Kajiho, Yuko;
- Toyofuku, Etsushi;
- Takahashi, Chie;
- Owada, Keiho;
- Kanda, Shoichiro;
- Harita, Yutaka;
- Ohnishi, Hidenori;
- Wada, Taizo;
- Imai, Kohsuke;
- Kanegane, Hirokazu;
- Morio, Tomohiro;
- Oka, Akira
Publication type:
Case Study
Hematopoietic cell transplantation for myeloid/NK cell precursor acute leukemia in second remission.
Published in:
2018
By:
- Noguchi, Yusuke;
- Tomizawa, Daisuke;
- Hiroki, Haruka;
- Miyamoto, Satoshi;
- Tezuka, Mari;
- Miyawaki, Reiji;
- Tanaka‐kubota, Mari;
- Okano, Tubasa;
- Kobayashi, Chika;
- Mitsuiki, Noriko;
- Aoki, Yuki;
- Imai, Kohsuke;
- Kajiwara, Michiko;
- Kanegane, Hirokazu;
- Morio, Tomohiro;
- Takagi, Masatoshi
Publication type:
Case Study
Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants.
Published in:
Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.677572
By:
- Totsune, Eriko;
- Nakano, Tomohiro;
- Moriya, Kunihiko;
- Sato, Daichi;
- Suzuki, Dai;
- Miura, Akinobu;
- Katayama, Saori;
- Niizuma, Hidetaka;
- Kanno, Junko;
- van Zelm, Menno C.;
- Imai, Kohsuke;
- Kanegane, Hirokazu;
- Sasahara, Yoji;
- Kure, Shigeo
Publication type:
Article
Current Perspectives and Unmet Needs of Primary Immunodeficiency Care in Asia Pacific.
Published in:
Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.01605
By:
- Leung, Daniel;
- Chua, Gilbert T.;
- Mondragon, Alric V.;
- Zhong, Youjia;
- Nguyen-Ngoc-Quynh, Le;
- Imai, Kohsuke;
- Vignesh, Pandiarajan;
- Suratannon, Narissara;
- Mao, Huawei;
- Lee, Wen-I;
- Kim, Yae-Jean;
- Chan, Godfrey C. F.;
- Liew, Woei Kang;
- Huong, Le Thi Minh;
- Kanegane, Hirokazu;
- Muktiarti, Dina;
- Zhao, Xiaodong;
- Santos-Ocampo, Fatima Johanna;
- Latiff, Amir Hamzah Abdul;
- Seger, Reinhard
Publication type:
Article
adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa.
Published in:
2022
By:
- Niwano, Tomoko;
- Hosoya, Tadashi;
- Kadowaki, Saori;
- Toyofuku, Etsushi;
- Naruto, Takuya;
- Shimizu, Masaki;
- Ohnishi, Hidenori;
- Koike, Ryuji;
- Morio, Tomohiro;
- Imai, Kohsuke;
- Yoshida, Masayuki;
- Yasuda, Shinsuke
Publication type:
Case Study
Somatic mutation in RUNX1 underlies mucocutaneus inflammatory manifestations.
Published in:
2021
By:
- Okano, Tsubasa;
- Nishimura, Akira;
- Inoue, Kento;
- Naruto, Takuya;
- Tokoro, Shown;
- Tomoda, Takahiro;
- Kamiya, Takahiro;
- Simbo, Asami;
- Akutsu, Yuko;
- Okamoto, Keisuke;
- Yeh, Tzuwen;
- Isoda, Takeshi;
- Yanagimachi, Masakatsu;
- Kajiwara, Michiko;
- Imai, Kohsuke;
- Kanegane, Hirokazu;
- Mori, Masaaki;
- Morio, Tomohiro;
- Takagi, Masatoshi
Publication type:
Case Study
Induction therapy with rituximab for lupus nephritis due to prolidase deficiency.
Published in:
2020
By:
- Sato, Satoshi;
- Ohnishi, Takuma;
- Uejima, Yoji;
- Furuichi, Mihoko;
- Fujinaga, Shuichiro;
- Imai, Kohsuke;
- Nakamura, Kimitoshi;
- Kawano, Yutaka;
- Suganuma, Eisuke
Publication type:
Case Study
A case of autoimmune enteropathy with CTLA4 haploinsufficiency.
Published in:
Intestinal Research, 2022, v. 20, n. 1, p. 144, doi. 10.5217/ir.2020.00041
By:
- Haruka Miyazaki;
- Namiko Hoshi;
- Michitaka Kohashi;
- Eri Tokunaga;
- Yuna Ku;
- Haruka Takenaka;
- Makoto Ooi;
- Nobuyuki Yamamoto;
- Suguru Uemura;
- Noriyuki Nishimura;
- Kazumoto Iijima;
- Keisuke Jimbo;
- Tsubasa Okano;
- Akihiro Hoshino;
- Kohsuke Imai;
- Hirokazu Kanegane;
- Ichiro Kobayashi;
- Yuzo Kodama
Publication type:
Article
A deep intronic BTK variant underlies X-linked agammaglobulinemia.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01694-w
By:
- Tateishi, Shoichiro;
- Shimizu, Shoichi;
- Moriya, Kunihiko;
- Kanegane, Hirokazu;
- Imai, Kohsuke
Publication type:
Article
Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 3, p. 585, doi. 10.1007/s10875-022-01405-3
By:
- Inoue, Kento;
- Miyamoto, Satoshi;
- Tomomasa, Dan;
- Adachi, Eriko;
- Azumi, Shohei;
- Horikoshi, Yasuo;
- Ishihara, Takashi;
- Osone, Shinya;
- Kawahara, Yuta;
- Kudo, Ko;
- Kato, Zenichiro;
- Ohnishi, Hidenori;
- Kashimada, Kenichi;
- Imai, Kohsuke;
- Ohara, Osamu;
- van Zelm, Menno C.;
- Cowan, Morton J.;
- Morio, Tomohiro;
- Kanegane, Hirokazu
Publication type:
Article
Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1360, doi. 10.1007/s10875-022-01308-3
By:
- Eto, Shohei;
- Nukui, Yoko;
- Tsumura, Miyuki;
- Nakagama, Yu;
- Kashimada, Kenichi;
- Mizoguchi, Yoko;
- Utsumi, Takanori;
- Taniguchi, Maki;
- Sakura, Fumiaki;
- Noma, Kosuke;
- Yoshida, Yusuke;
- Ohshimo, Shinichiro;
- Nagashima, Shintaro;
- Okamoto, Keisuke;
- Endo, Akifumi;
- Imai, Kohsuke;
- Kanegane, Hirokazu;
- Ohnishi, Hidenori;
- Hirata, Shintaro;
- Sugiyama, Eiji
Publication type:
Article
Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study.
Published in:
Journal of Clinical Immunology, 2021, v. 41, n. 8, p. 1865, doi. 10.1007/s10875-021-01112-5
By:
- Miyamoto, Satoshi;
- Umeda, Katsutsugu;
- Kurata, Mio;
- Nishimura, Akira;
- Yanagimachi, Masakatsu;
- Ishimura, Masataka;
- Sato, Maho;
- Shigemura, Tomonari;
- Kato, Motohiro;
- Sasahara, Yoji;
- Iguchi, Akihiro;
- Koike, Takashi;
- Takahashi, Yoshiyuki;
- Kajiwara, Michiko;
- Inoue, Masami;
- Hashii, Yoshiko;
- Yabe, Hiromasa;
- Kato, Koji;
- Atsuta, Yoshiko;
- Imai, Kohsuke
Publication type:
Article
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings.
Published in:
Journal of Clinical Immunology, 2021, v. 41, n. 5, p. 975, doi. 10.1007/s10875-021-00988-7
By:
- Imanaka, Yusuke;
- Taniguchi, Maki;
- Doi, Takehiko;
- Tsumura, Miyuki;
- Nagaoka, Rie;
- Shimomura, Maiko;
- Asano, Takaki;
- Kagawa, Reiko;
- Mizoguchi, Yoko;
- Karakawa, Shuhei;
- Arihiro, Koji;
- Imai, Kohsuke;
- Morio, Tomohiro;
- Casanova, Jean-Laurent;
- Puel, Anne;
- Ohara, Osamu;
- Kamei, Katsuhiko;
- Kobayashi, Masao;
- Okada, Satoshi
Publication type:
Article

Found: 117