Research for developing of a screening method for the congenital immunodeficiency by KREC/TREC to apply the method to the pathologic analysis

• Project/Area Number: 22390213
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: National Defense Medical College
• Principal Investigator: NONOYAMA Shigeaki 防衛医科大学校, 医学教育部医学科専門課程, 教授 (40280961)
• Co-Investigator(Kenkyū-buntansha): OHARA Osamu 公益財団法人かずさDNA研究所, ヒトゲノム研究部, 副所長 (20370926) ; OSHIMA Koichi 京都大学, 学内共同利用施設等, 研究員 (60525377) ; IMAI Kohsuke 東京医科歯科大学, 医歯(薬)学総合研究科, 准教授 (90332626)
• Project Period (FY): 2010 – 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥18,720,000 (Direct Cost: ¥14,400,000、Indirect Cost: ¥4,320,000); Fiscal Year 2012: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000); Fiscal Year 2011: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000); Fiscal Year 2010: ¥8,060,000 (Direct Cost: ¥6,200,000、Indirect Cost: ¥1,860,000)
• Keywords: 小児免疫・アレルギー・膠原病学 / 免疫学 / 遺伝子 / 移植・再生医療 / 発生・分化 / 感染症

Research Abstract

We developed real-time PCR-based quantification of T cell receptor excision circles (TREC) and signal joint Ig kappa-deleting recombination excision circles (KREC). We demonstrated that TREC and KREC measurement can be used for mass screening of severe combined immunodeficiency (SCID) and B lymphocyte deficiency in neonates. We also found that TREC and KREC can be used for classifying clinically diagnosed CVID patients into four groups, and that the clinical manifestations, prognosis and outcome are significantly different in these groups, indicating TREC/KREC are good clinical markers.

Research Products

• [Journal Article] Neonatal herpes encephalitis caused by a virologically confirmed acyclovir resistant herpes simplex virus type 1 (2013)
  • Author(s): Kakiuchi S, Nonoyama S, Wakamatsu H, Kogawa K, Wang L, Kinoshita-Yamaguchi H, Takayama-Ito M, Lim CK, Inoue N, Mizuguchi M, Igarashi T, Saijo M
  • Journal Title: J. Clin. Microbiol Volume: 51 Issue: 1 Pages: 356-9
  • DOI: 10.1128/jcm.02247-12
  • Peer Reviewed
• [Journal Article] Factors Associated with Steroid Phobia in Caregivers of Children with Atopic Dermatitis. (2013)
  • Author(s): Kojima R, Fujiwara T, Matsuda A, Narita M, Matsubara O, Nonoyama S, Ohya Y, Saito H, Matsumoto K.
  • Journal Title: Pediatr Dermatol. Volume: 30 Issue: 1 Pages: 29-35
  • DOI: 10.1111/j.1525-1470.2012.01808.x
  • Peer Reviewed
• [Journal Article] Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension. (2013)
  • Author(s): Wakabayashi M
  • Journal Title: Cell Rep. Volume: 28 Issue: 3 Pages: 858-868
  • DOI: 10.1016/j.celrep.2013.02.024
  • Peer Reviewed
• [Journal Article] Kasabach-Merritt Phenomenon: A Report of 11 Cases From a Single Institution. (2013)
  • Author(s): Yasui N, Koh K, Kato M, Park MJ, Tomizawa D, Oshima K, Uchisaka N, Gocho Y, Arakawa A, Seki M, Oguma E, Kishimoto H, Watanabe S, Kikuchi A, Hanada R.
  • Journal Title: J Pediatr Hematol Oncol. Volume: in press
  • Peer Reviewed
• [Journal Article] Robust and highly-efficient differentiation of functional monocytic cells from human pluripotent stem cells under serum- and feeder cell- free conditions. (2013)
  • Author(s): Yanagimachi MD, Niwa A, Tanaka T, Ozaki F, Nishimoto S, Murata Y, Yasumi T, Ito J, Tomida S, Oshima K, Asaka I, Goto H, Heike T, Nakahata T, Saito MK
  • Journal Title: PLoS ONE Volume: 8(4) Issue: 4 Pages: e59243-e59243
  • DOI: 10.1371/journal.pone.0059243
  • NAID: 120005244458
  • Peer Reviewed
• [Journal Article] Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia. (2013)
  • Author(s): Yoshimi A, Kamachi Y, Kojima S and et al.
  • Journal Title: Pediatr Blood Cancer. Volume: 60 Issue: 5 Pages: 836-841
  • DOI: 10.1002/pbc.24359
  • Peer Reviewed
• [Journal Article] Successful Treatment of Diffuse Large B-Cell Lymphoma in a Patient With Ataxia Telangiectasia Using Rituximab. (2013)
  • Author(s): Machida S, Tomizawa D, Tamaichi H, Okawa T, Endo A, Imai K, Nagasawa M, Morio T, Mizutani S, Takagi M.
  • Journal Title: Pediatr Hematol Oncol. Volume: in press
  • Peer Reviewed
• [Journal Article] Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency. (2013)
  • Author(s): Kanegane H, Taneichi H, Nomura K, Wada T, Yachie A, Imai K, Ariga T, Santisteban I, Hershfield MS, Miyawaki T.
  • Journal Title: Pediatr Transplant. Volume: 71 Issue: 1
  • DOI: 10.1111/j.1399-3046.2012.01762.x
  • Peer Reviewed
• [Journal Article] Deenick EK, Tangye SG. Functional STAT3 deficiency compromises the generation of human T follicular helper cells. (2012)
  • Author(s): Ma CS, Avery DT, Chan A, Batten M, Bustamante J, Boisson-Dupuis S, Arkwright PD, Kreins AY, Averbuch D, Engelhard D, Magdorf K, Kilic SS, Minegishi Y, Nonoyama S, French MA, Choo S, Smart JM, Peake J, Wong M, Gray P, Cook MC, Fulcher DA
  • Journal Title: Blood Volume: 119 Issue: 17 Pages: 3997-4008
  • DOI: 10.1182/blood-2011-11-392985
  • Peer Reviewed
• [Journal Article] The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils (2012)
  • Author(s): Honda F, Kanegane H, et al
  • Journal Title: Nat Immunol Volume: 13 Issue: 4 Pages: 369-378
  • DOI: 10.1038/ni.2234
  • Peer Reviewed
• [Journal Article] GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia (2012)
  • Author(s): Ishida H, Imai K, Homma K, Tamura S, Imamura T, Itoh M, Nonoyama S
  • Journal Title: Eur J Pediatr Volume: 171 Issue: 8 Pages: 1273-1276
  • DOI: 10.1007/s00431-012-1715-7
  • Peer Reviewed
• [Journal Article] Hyper-eosinophilia in granular acute B-cell lymphoblastic leukemia with myeloid antigen expression. (2012)
  • Author(s): Kobayashi D, Kogawa K, Imai K, Tanaka T, Sada A, Nonoyama S.
  • Journal Title: Pediatr Int. Volume: 54 Issue: 4 Pages: 543-546
  • DOI: 10.1111/j.1442-200x.2011.03471.x
  • Peer Reviewed
• [Journal Article] Clinical and genetic characteristics of XIAP deficiency in Japan. (2012)
  • Author(s): Yang X, Kanegane H, Nishida N, Imamura T, Hamamoto K, Miyashita R, Imai K, Nonoyama S, Sanayama K, Yamaide A, Kato F, Nagai K, Ishii E, Zelm M, Latour S, Zhao X, Miyawaki T.
  • Journal Title: J Clin Immunol. Volume: 32 Issue: 3 Pages: 411-420
  • DOI: 10.1007/s10875-011-9638-z
  • Peer Reviewed
• [Journal Article] Missense Mutations of the BMPR1B (ALK6) Gene in Childhood Idiopathic Pulmonary Arterial Hypertension. (2012)
  • Author(s): Chida A, Shintani M, Nakayama T, Furutani Y, Hayama E, Inai K, Saji T, Nonoyama S, Nakanishi T.
  • Journal Title: Circ J. Volume: 76 Pages: 1501-1508
  • NAID: 10030316588
  • Peer Reviewed
• [Journal Article] Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, north India. (2012)
  • Author(s): Suri D, Singh S, Sehgal S and et al.
  • Journal Title: Asian Pac J Allergy Immunol. Volume: 30 Pages: 71-78
  • Peer Reviewed
• [Journal Article] NKRP1A+ γδ and αβ T cells are preferentially induced in patients with Salmonella infection. (2012)
  • Author(s): Hoshina T
  • Journal Title: Hum Immunol Volume: 73 Issue: 4 Pages: 623-628
  • DOI: 10.1111/j.1365-2265.2012.04390.x
  • Peer Reviewed
• [Journal Article] Survey of Japanese infants younger than 3 months who were treated with oseltamivir for influenza: Safety of oseltamivir treatment. (2012)
  • Author(s): Morioka I, Nonoyama S, Tanaka-Taya K, Ihara T, Sugaya N, Ueta I, Kumagai T, Okada K, Hosoya M, Okabe N, Morishima T.
  • Journal Title: Scand J Infect Dis. Volume: 44 Issue: 8 Pages: 605-609
  • DOI: 10.3109/00365548.2012.669844
  • Peer Reviewed
• [Journal Article] Multiple reversions of an IL2RG mutation restore combined immunodeficiency patient. (2012)
  • Author(s): Kawai T., Saito M., Nishikomori R., Yasumi T., Izawa K., Murakami T., Okamoto N., Mori Y., Nakagawa N., Imai K., Nonoyama S., Wada T., Yatie A., Oomori K., Nakahata T., Heike T.
  • Journal Title: J. Clin. Immunol Volume: 32(4) Issue: 4 Pages: 690-7
  • DOI: 10.1007/s10875-012-9684-1
  • Peer Reviewed
• [Journal Article] Outcomes of ChildhoodPulmonary Arterial Hypertension in BMPR2 and ALK1 Mutation Carriers. (2012)
  • Author(s): Chida A, Shintani M, Nakanishi T and et al.
  • Journal Title: Am J Cardiol. Volume: 110 Issue: 4 Pages: 586-593
  • DOI: 10.1016/j.amjcard.2012.04.035
  • Peer Reviewed
• [Journal Article] Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. (2012)
  • Author(s): Nakaoka H, Kanegane H, Taneichi H, Miya K, Yang X, Nomura K, Takezaki S, Yamada M, Ohara O, Kamae C, Imai K, Nonoyama S, Wada T, Yachie A, Hershfield MS, Ariga T, Miyawaki T.
  • Journal Title: Int J Hematol. Volume: 95 Issue: 6 Pages: 692-696
  • DOI: 10.1007/s12185-012-1055-4
  • NAID: 10030793746
  • Peer Reviewed
• [Journal Article] A dual reporter splicing assay using HaloTag-containing proteins. Curr Chem Genomics. (2012)
  • Author(s): Oshima K, Nagase T, Imai K, Nonoyama S, Obara M, Mizukami T, Nunoi H, Kanegane H, Kuribayashi F, Amemiya S, Ohara O.
  • Journal Title: Curr Chem Genomics. Volume: 6 Issue: 1 Pages: 27-37
  • DOI: 10.2174/1875397301206010027
  • Peer Reviewed
• [Journal Article] Matched sibling donor stem cell transplantation for Fanconi anemia patients with T-cell somatic mosaicism (2012)
  • Author(s): Yabe M, Shimizu T, Morimoto T, Koike T, Takakura H, Tsukamoto H, Muroi K, Oshima K, Asami K, Takata M, Yamashita T, Kato S, Yabe H
  • Journal Title: Pediatric Transplant Volume: (印刷中) Issue: 4 Pages: 340-345
  • DOI: 10.1111/j.1399-3046.2012.01669.x
  • Peer Reviewed
• [Journal Article] Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery (2012)
  • Author(s): Tanaka T., Takahashi K., Yamane M., Tomida S., Nakamura S., Oshima K., Niwa A., Nishikomori R., Kambe N., Hara H., Mitsuyama M., Morone N., Heuse J.E., Yamamoto T., Watanabe A., Sato-Otsubo A., Ozawa S., Asaka I., Heike T., Yamanaka S., Nak
  • Journal Title: Blood Volume: 120(6) Issue: 6 Pages: 1299-308
  • DOI: 10.1182/blood-2012-03-417881
  • Peer Reviewed
• [Journal Article] A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura. (2012)
  • Author(s): Kawasaki Y, Toyoda H, Otsuki S, Iwasa T, Iwamoto S, Azuma E, Itoh-Habe N, Wada H, Fujimura Y, Morio T, Imai K, Mitsuiki N, Ohara O, Komada Y.
  • Journal Title: Eur J Haematol. Volume: 90 Issue: 2 Pages: 164-168
  • DOI: 10.1111/ejh.12057
  • Peer Reviewed
• [Journal Article] Hyper-eosinophilia in granular acute B-cell lymphoblastic leukemia with myeloid antigen expression (2012)
  • Author(s): Kobayashi D, Kogawa K, Imai K, Tanaka T, Sada A, Nonoyama S
  • Journal Title: Pediatr Int Volume: (in press)
  • Peer Reviewed
• [Journal Article] Clinical and genetic characteristics of XIAP deficiency in Japan (2012)
  • Author(s): Yang X, Kanegane H, Nishida N, Imamura T, Hamamoto K, Miyashita R, Imai K, Nonoyama S, Sanayama K, Yamaide A, Kato F, Nagai K, Ishii E, Zelm M, Latour S, Zhao X, Miyawaki T
  • Journal Title: J Clin Immunol Volume: (in press)
  • Peer Reviewed
• [Journal Article] Functional STAT3 deficiency compromises IL-12-dependent generation of human T-follicular helper cells (2012)
  • Author(s): Ma CS, Avery DT, Chan A, Batten M, Bustamante J, Boisson-Dupuis S, Arkwright PD, Minegishi Y, Nonoyama S, French MA, Choo S, Peake J, Wong M, Cook MC, Fulcher DA, Casanova JL, Deenick EK, Tangye SG
  • Journal Title: Blood Volume: (in press)
  • Peer Reviewed
• [Journal Article] Missense Mutations of the BMPR1B (ALK6) Gene in Childhood Idiopathic Pulmonary Arterial Hypertension (2012)
  • Author(s): Chida A, Shintani M, Nakayama T, Furutani Y, Hayama E, Inai K, Saji T, Nonoyama S, Nakanishi T
  • Journal Title: Circ J Volume: (in press)
  • NAID: 10030316588
  • Peer Reviewed
• [Journal Article] Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, north India (2012)
  • Author(s): Suri D, Singh S, Rawat A, Gupta A, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Bilhou-Nabera C, Proust A, Ahluwalia J, Dogra S, Saikia B, Walker Minz R, Sehgal S
  • Journal Title: Asian Pac J Allergy Immunol Volume: 30 Pages: 1-8
  • Peer Reviewed
• [Journal Article] Factors Associated with Steroid Phobia in Caregivers of Children with Atopic Dermatitis (2012)
  • Author(s): Kojima R, Fujiwara T, Matsuda A, Narita M, Matsubara O, Nonoyama S, Ohya Y, Saito H, Matsumoto K
  • Journal Title: Pediatr Dermatol Volume: (in press)
  • Peer Reviewed
• [Journal Article] Endocrine complications in primary immunodeficiency diseases in Japan (2012)
  • Author(s): Nozaki T, Takada H, Ishimura M, Ihara K, Imai K, Morio T, Kobayashi M, Nonoyama S, Hara T
  • Journal Title: Clin Endocrinol Volume: (in press)
  • Peer Reviewed
• [Journal Article] Survey of Japanese infants younger than 3 months who were treated with oseltamivir for influenza : Safety of oseltamivir treatment (2012)
  • Author(s): Morioka I, Nonoyama S, Tanaka-Taya K, Ihara T, Sugaya N, Ueta I, Kumagai T, Okada K, Hosoya M, Okabe N, Morishima T
  • Journal Title: Scand J Infect Dis Volume: (in press)
  • Peer Reviewed
• [Journal Article] Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient (2012)
  • Author(s): Kawai T, Saito M, Nishikomori R, Yasumi T, Izawa K, Murakami T, Okamoto S, Mori Y, Nakagawa N, Imai K, Nonoyama S, Wada T, Yachie A, Ohmori K, Nakahata T, Heike T
  • Journal Title: J Clin Immunol Volume: (in press)
  • Peer Reviewed
• [Journal Article] Outcomes of Childhood Pulmonary Arterial Hypertension in BMPR2 and ALK1 Mutation Carriers (2012)
  • Author(s): Chida A, Shintani M, Yagi H, Fujiwara M, Kojima Y, Sato H, Imamura S, Yokozawa M, Onodera N, Horigome H, Kobayashi T, Hatai Y, Nakayama T, Fukushima H, Nishiyama M, Doi S, Ono Y, Yasukouchi S, Ichida F, Fujimoto K, Ohtsuki S, Teshima H, Kawano T, Nomura Y, Gu H, Ishiwata T, Furutani Y, Inai K, Saji T, Matsuoka R, Nonoyama S, Nakanishi T
  • Journal Title: Am J Cardiol Volume: (in press)
  • Peer Reviewed
• [Journal Article] Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis (2012)
  • Author(s): Nakaoka H, Kanegane H, Taneichi H, Miya K, Yang X, Nomura K, Takezaki S, Yamada M, Ohara O, Kamae C, Imai K, Nonoyama S, Wada T, Yachie A, Hershfield MS, Ariga T, Miyawaki T
  • Journal Title: Int J Hematol Volume: (in press)
  • NAID: 10030793746
  • Peer Reviewed
• [Journal Article] Severe primary antibody deficiency due to a novel mutation of micro heavy chain (2012)
  • Author(s): Mohammadzadeh I, Yeganeh M, Aghamohammadi A, Parvaneh N, Behniafard N, Abolhassani H, Tabassomi F, Hemmat M, Kanegane H, Miyawaki T, Ohara O, Rezaei N
  • Journal Title: J Investig Allergol Clin Immunol Volume: 22 Pages: 78-79
  • Peer Reviewed
• [Journal Article] Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells (2011)
  • Author(s): Saito M,…, Takada H, et al
  • Journal Title: J Exp Med Volume: 208 Issue: 2 Pages: 235-249
  • DOI: 10.1084/jem.20100799
  • Peer Reviewed
• [Journal Article] Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell (2011)
  • Author(s): Nakagawa N,…, Takada H, et al
  • Journal Title: J Allergy Clin Immunol Volume: 128 Issue: 1 Pages: 223-225
  • DOI: 10.1016/j.jaci.2011.01.052
  • Peer Reviewed
• [Journal Article] Nationwide Survey of Patients with Primary Immunodeficiency Diseases in Japan (2011)
  • Author(s): Ishimura M, 他
  • Journal Title: Journal of clinical immunology Volume: (in press) Issue: 6 Pages: 968-976
  • DOI: 10.1007/s10875-011-9594-7
  • Peer Reviewed
• [Journal Article] Primary Immunodeficiency Diseases: an update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency (2011)
  • Author(s): Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarstrom L, Nonoyama S, Notarangelo LD, Ochs HD, Puck JM, Roifman C, Seger R, Tang MLK
  • Journal Title: Front Immun Volume: 2 Pages: 54-54
  • DOI: 10.3389/fimmu.2011.00054
• [Journal Article] Analysis of mutations and recombination activity in RAG-deficient patients (2011)
  • Author(s): Asai E, Wada T, Sakakibara Y, Toga A, Toma T, Shimizu T, Nampoothiri S, Imai K, Nonoyama S, Morio T, Muramatsu H, Kamachi Y, Ohara O, Yachie A
  • Journal Title: Clin Immunol Volume: 138 Issue: 2 Pages: 172-7
  • DOI: 10.1016/j.clim.2010.11.005
  • NAID: 120002772030
• [Journal Article] Rapid diagnosis of familial hemophagocytic lymphohistiocytosis type 3 (FHL3) by flow cytometric detection of intraplatelet Munc 13-4 protein. (2011)
  • Author(s): Murata Y., Yasumi T., Shirakawa R., Izawa K., Sakai H., Abe J., Tanaka N., Kawai T., Oshima K., Saito M., Nishikomori R., Ohara O.、Ishii E., Nakahata T., Horiuchi H., Heike T.
  • Journal Title: Blood Volume: 118 Issue: 5 Pages: 1225-1230
  • DOI: 10.1182/blood-2011-01-329540
  • Peer Reviewed
• [Journal Article] A novel serum-free monolayer culture for orderly hematopoietic differentiation of human pluripotent cells via mesodermal progenitors (2011)
  • Author(s): Niwa A, Heike T, Umeda K, et al.
  • Journal Title: PloS One Volume: 6 Issue: 7 Pages: e22261-e22261
  • DOI: 10.1371/journal.pone.0022261
  • NAID: 120003324603
  • Peer Reviewed
• [Journal Article] ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability (2011)
  • Author(s): Okura Y, Yamada M, Kobayashi I, Santisteban I, Arredondo-Santisteban G, Kato Z, Iguchi A, Yoshida M, Ohara O, Nakagawa N, Imai K, Hershfield MS, Ariga T
  • Journal Title: Br J Haematol Volume: 153(5) Issue: 5 Pages: 675-6
  • DOI: 10.1111/j.1365-2141.2011.08640.x
  • Peer Reviewed
• [Journal Article] Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry (2011)
  • Author(s): Zhao M, Kanegane H, Kobayashi C, Nakazawa Y, Ishii E, Kasai M, Terui K, Gocho Y, Imai K, Kiyasu J, Nonoyama S, Miyawaki T
  • Journal Title: Cytometry B Clin Cytom Volume: 80 Pages: 8-13
  • Peer Reviewed
• [Journal Article] Contribution of Sarcoplasmic Reticulum Ca2+ Release and Ca2+ Transporters on Sarcolemmal Channels to Ca2+ Transient in Fetal Mouse Heart (2011)
  • Author(s): Takizawa M, Ishiwata T, Kawamura Y, Kanai T, Kurokawa T, Nishiyama M, Ishida H, Asano Y, Nonoyama S
  • Journal Title: Pediatr Res Volume: 69 Pages: 306-311
  • Peer Reviewed
• [Journal Article] Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells (2011)
  • Author(s): Saito M, Nagasawa M, Takada H, Hara T, Tsuchiya S, Agematsu K, Yamada M, Kawamura N, Ariga T, Tsuge I, Nonoyama S, Karasuyama H, Minegishi Y
  • Journal Title: J Exp Med Volume: 208 Pages: 235-249
  • Peer Reviewed
• [Journal Article] Severe human herpesvirus 6 associated encephalopathy in three children : Analysis of cytokine profiles and the carnitine palmitoyltransferase 2 gene (2011)
  • Author(s): Matsumoto H, Hatanaka D, Ogura Y, Chida A, Nakamura Y, Nonoyama S
  • Journal Title: Pediatr Infect Dis J Volume: 30 Pages: 999-1001
  • Peer Reviewed
• [Journal Article] Nationwide Survey of Patients with Primary Immunodeficiency Diseases in Japan (2011)
  • Author(s): Ishimura M, Takada H, Doi T, Imai K, Sasahara Y, Kanegane H, Nishikomori R, Morio T, Heike T, Kobayashi M, Ariga T, Tsuchiya S, Nonoyama S, Miyawaki T, Hara T
  • Journal Title: J Clin Immunol Volume: 31 Pages: 968-976
  • NAID: 120005133089
  • Peer Reviewed
• [Journal Article] Primary Immunodeficiency Diseases : an update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency (2011)
  • Author(s): Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarstrom L, Nonoyama S, Notarangelo LD, Ochs HD, Puck JM, Roifman C, Seger R, Tang MLK
  • Journal Title: Front Immun Volume: 2 Pages: 54-54
  • Peer Reviewed
• [Journal Article] Quantification of human herpesvirus-6 (HHV-6) DNA in a cord blood transplant recipient with chromosomal integration of HHV-6 (2011)
  • Author(s): Kobayashi D, Kogawa K, Imai K, Tanaka T, Hiroi S, Satoh H, Tanaka-Taya K, Nonoyama S
  • Journal Title: Transpl Infect Dis Volume: 13 Pages: 650-653
  • Peer Reviewed
• [Journal Article] Ulinastatin, a Urinary Trypsin Inhibitor, for the Initial Treatment of Patients with Kawasaki (2011)
  • Author(s): Kanai T, Ishiwata T, Kobayashi T, Sato H, Takizawa M, Kawamura Y, Tsujimoto H, Nakatani K, Ishibashi N, Nishiyama M, Hatai Y, Asano Y, Kobayashi T, Takeshita S, Nonoyama S
  • Journal Title: Circulation Volume: 124 Pages: 2822-2828
  • Peer Reviewed
• [Journal Article] Cardiopulmonary arrest caused by craniometaphyseal dysplasia (2011)
  • Author(s): Chida A, Yanagawa Y, Matsumoto H, Nonoyama S
  • Journal Title: Indian J Pediatr Volume: 78 Pages: 1010-1012
  • Peer Reviewed
• [Journal Article] Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan (2011)
  • Author(s): Hoshina T, Takada H, Sasaki-Mihara Y, Kusuhara K, Oshima K, Okada S, Kobayashi M, Ohara O, Hara T
  • Journal Title: J Clin Immunol Volume: 31 Pages: 309-314
  • Peer Reviewed
• [Journal Article] A novel serum-free monolayer culture for orderly hematopoietic differentiation of human pluripotent cells via mesodermal progenitors (2011)
  • Author(s): Niwa A, Heike T, Umeda K, Oshima K, Kato I, Sakai H, Suemori H, Nakahata T, Saito MK.Jul
  • Journal Title: PLoS One Volume: 6
  • NAID: 120003324603
  • Peer Reviewed
• [Journal Article] High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome (2011)
  • Author(s): Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Arostegui JI, Yague J, Merino R, Ibanez M, Pontillo A, Takada H, Imagawa T
  • Journal Title: Arthritis Rheum Volume: 63 Issue: 11 Pages: 3625-32
  • DOI: 10.1002/art.30512
  • Peer Reviewed
• [Journal Article] Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome (2011)
  • Author(s): Mizuno T, Sakai H, Nishikomori R, Oshima K, Ohara O, Hata I, Shigematsu Y, Ishige T, Tamura K, Arakawa H
  • Journal Title: Rheumatol Interest Volume: (in press)
  • Peer Reviewed
• [Journal Article] Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry. (2011)
  • Author(s): Zhao M, Kanegane H, Kobayashi C, Nonoyama S, et al.
  • Journal Title: Cytometry Part B Clinical Cytometry Volume: 80(1) Pages: 8-13
  • Peer Reviewed
• [Journal Article] Analysis of mutations and recombination activity in RAG-deficient patients. (2011)
  • Author(s): Asai E, Wada T, Sakakibara Y, Nonoyama S, et al.
  • Journal Title: Clinical Immunology Volume: 138(2) Pages: 172-7
  • NAID: 120002772030
  • Peer Reviewed
• [Journal Article] Contribution of sarcoplasmic reticulum Ca^2+ release and Ca^2+ transporters on sarcolemmal channels to Ca^2+ transient in fetal mouse heart.ouse heart. (2011)
  • Author(s): Takizawa M, Ishiwata T, Kawamura Y, Nonoyama S., et al.
  • Journal Title: Pediatric Research Volume: 69(4) Pages: 306-11
  • Peer Reviewed
• [Journal Article] Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells. (2011)
  • Author(s): Saito M, Nagasawa M, Takada H, Nonoyama S, et al.
  • Journal Title: The Journal of Experimental Medicine Volume: 208(2) Pages: 235-49
  • Peer Reviewed
• [Journal Article] Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. (2011)
  • Author(s): Nakagawa N, Imai K, Kanegane H, Nonoyama S., et al.
  • Journal Title: Journal of Allergy and Clinical Immunology Volume: (In press)
  • Peer Reviewed
• [Journal Article] X-linked thrombocytopenia (XLT) due to WAS mutations:Clinical characteristics, long-term outcome and treatment options (2010)
  • Author(s): Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, Espanol T, Fasth A, Pellier I, Strauss G, MorioT ,Gathmann B, Noordzij JG, Fillat C, Hoenig M, Nathrath M, Meindl A, Pagel P, Wintergerst U, Fischer A, Thrasher AJ, Belohradsky BH, Ochs HD
  • Journal Title: Blood Volume: 115 Issue: 16 Pages: 3231-3238
  • DOI: 10.1182/blood-2009-09-239087
• [Journal Article] Hemophagocytosis after bone marrow transplantation for JAK3-deficient severe combined immunodeficiency. (2010)
  • Author(s): Hashii Y, Yoshida H, Kuroda S, Nonoyama S, et al.
  • Journal Title: Pediatric Transplantation Volume: 14(8)
  • Peer Reviewed
• [Journal Article] A case of glycogen storage disease type Ib presenting with prolonged neonatal hypoglycaemia and minimal metabolic abnormalities. (2010)
  • Author(s): Matsumoto H, Kajiwara S, Ogura Y, Asano T, Horikawa R, Nonoyama S.
  • Journal Title: Acta Paediatrica Volume: 99(2) Pages: 163-4
  • Peer Reviewed
• [Journal Article] Quantitative assessment of PTPN11 or RAS mutations at the neonatal period and during the clinical course in patients with juvenile myelomonocytic leukaemia. (2010)
  • Author(s): Matsuda K, Sakashita K, Taira C, Nonoyama S, et al.
  • Journal Title: British Journal of Haematology Volume: 148(4) Pages: 593-9
  • Peer Reviewed
• [Journal Article] X-linked thrombocytopenia (XLT) due to WAS mutations : clinical characteristics, long-term outcome, and treatment options. (2010)
  • Author(s): Albert MH, Bittner TC, Nonoyama S, et al.
  • Journal Title: Blood Volume: 115(16) Pages: 3231-8
  • Peer Reviewed
• [Journal Article] Fetal and neonatal development of Ca^2+ transients and functional sarcoplasmic reticulum in beating mouse hearts. (2010)
  • Author(s): Kawamura Y, Ishiwata T, Takizawa M, Ishida H, Asano Y, Nonoyama S.
  • Journal Title: Circulation Journal Volume: 74(7) Pages: 1442-50
  • NAID: 10030695829
  • Peer Reviewed
• [Journal Article] Hyper IgM syndrome and complement Clq deficiency in an individual with systemic lupus erythematosus-like disease. (2010)
  • Author(s): Tsuge I, Kondo Y, Nakajima Y, Nonoyama S, et al.
  • Journal Title: Clinical and Experimental Rheumatology Volume: 28(4) Pages: 558-60
  • Peer Reviewed
• [Journal Article] Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin Msyndrome. (2010)
  • Author(s): Aghamohammadi A, Imai K, Moazzami K, Nonoyama S, et al.
  • Journal Title: Journal of Investigational Allergology and Clinical Immunology Volume: 20(5) Pages: 442-5
  • Peer Reviewed
• [Journal Article] Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. (2010)
  • Author(s): Picard C, von Bernuth H, Ghandil P, Nonoyama S, et al.
  • Journal Title: Medicine (Baltimore) Volume: 89(6) Pages: 403-25
  • Peer Reviewed
• [Presentation] 次世代シークエンサーにより、原因遺伝子の同定に至ったCVIDの1例 (2012)
  • Author(s): 釜江智佳子、満生紀子、小原明、野口恵美子、久保田健夫、本間健一、小原收、今井耕輔、野々山恵章
  • Organizer: 第3回関東甲越免疫不全症研究会
  • Place of Presentation: 東京
  • Year and Date: 2012-09-22
• [Presentation] Clinical features and immunological abnormalities of GATA2 deficiency in JAPAN (2012)
  • Author(s): Honma K, Imai K, Kamae C, Ishida H, Ito Y, Kojima S, Yokosuka T, Kanegane H, Morio T, Sasahara Y, Fujiwara T, Harigae H, Hashii Y, Ohara O, Nonoyama S
  • Organizer: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • Place of Presentation: Florence, Italy
• [Presentation] Classification of common variable immunodeficiency by quantification of T cell receptor recombination excision circles (TREC) and Ig kappa-deleting recombination excision circles (KREC) (2012)
  • Author(s): Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarstrom Q, MC van Zelm, Morio T, Imai K, Nonoyama S
  • Organizer: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • Place of Presentation: Florence, Italy
• [Presentation] Genetic analysis for 207 cases with primary immunodeficiency (PID) consulted to a single center through PID network in Japan (PIDJ) in 5 years (2007-2011) (2012)
  • Author(s): Mitsuiki N, Oshima K, Imai K, Ohara O, Morio T, Mizutani S
  • Organizer: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • Place of Presentation: Florence, Italy
• [Presentation] Clinical features and immunological abnormalities of GATA2 deficiency in JAPAN. (2012)
  • Author(s): Honma K, Imai K, Kamae C, Ishida H, Ito Y, Kojima S, Yokosuka T, Kanegane H, Morio T, Sasahara Y, Fujiwara T, Harigae H, Hashii Y, Ohara O, Nonoyama S.
  • Organizer: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • Place of Presentation: Florence, Italy.
• [Presentation] Classification of common variable immunodeficiency by quantification of T cell receptor recombination excision circles (TREC) and Ig kappa-deleting recombination excision circles (KREC). (2012)
  • Author(s): Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarström Q, MC van Zelm, Morio T, Imai K, Nonoyama S.
  • Organizer: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • Place of Presentation: Florence, Italy.
• [Presentation] Genetic analysis for 207 cases with primary immunodeficiency (PID) consulted to a single center through PID network in Japan (PIDJ) in 5 years (2007-2011). (2012)
  • Author(s): Mitsuiki N, Oshima K, Imai K, Ohara O, Morio T, Mizutani S.
  • Organizer: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • Place of Presentation: Florence, Italy.
• [Book] 小児科診療 (2013)
  • Author(s): 今井耕輔
  • Total Pages: 9
  • Publisher: PIDJと原発性免疫不全の新生児スクリーニング
• [Book] 臨床血液 (2012)
  • Author(s): 今井耕輔
  • Total Pages: 9
  • Publisher: 原発性免疫不全症の遺伝子診断・治療
• [Book] 臨床免疫・アレルギー科 (2012)
  • Author(s): 今井耕輔
  • Total Pages: 11
  • Publisher: 原発性免疫不全症の最新国際分類
• [Remarks]
  • URL: http://pidj.rcai.riken.jp/
• [Remarks] 原発性免疫不全症候群 医療関係者サイト
  • URL: http://pidj.rcai.riken.jp/
• [Remarks]
  • URL: http://pidj.rcai.riken.jp/
• [Remarks]
  • URL: http://pidj.rcai.riken.jp/