Development of easy and cost-effective mass-screening of severe combined immunodeficiency using neonatal guthrie cards.

• Project/Area Number: 21791018
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Kyoto University
• Principal Investigator: OSHIMA Koichi Kyoto University, ips細胞研究所, 特定研究員 (60525377)
• Co-Investigator(Renkei-kenkyūsha): OHARA Osamu (財)かずさDNA研究所, ヒトゲノム研究部, 副所長 (20370926) ; NONOYAMA Shigeaki 防衛医科大学校, 医学教育部医学科専門課程, 教授 (40280961) ; IMAI Kohsuke 防衛医科大学校, 病院, 准教授 (90332626)
• Project Period (FY): 2009 – 2010
• Project Status: Completed (Fiscal Year 2010)
• Budget Amount: ¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000); Fiscal Year 2010: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000); Fiscal Year 2009: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
• Keywords: 重症複合免疫不全症 / マススクリーニング

Research Abstract

It aimed to make the newborn mass screening of the severe combined immunodeficiency come true, and the technology of diagnostics with simplified method, low cost and accuracy was developed. We attempted to establish the best condition in competitive PCR of the endogenous control (RNaseP) and TRECs that was the marker of T-cell generation by using the PCR reagent that makes it possible to perform PCR directly from Guthrie card dried blood. It has made significant strides toward the development of a prompt, simple, and low-cost mass screening system with a microchip electrophoresis device after PCR.

Research Products

• [Journal Article] Quantification of s-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. (2011)
  • Author(s): Nakaeawa N, Imai K, Kanegane H, Sate H, Yamada M, Kondoh K, Okada S, Kobayashi M, Agematsu K, Takada H, Mitsuiki N, Oshima K, Ohara O, Suri D, Rawat A, Singh S, Pan-Hammarstrom Q, Hammarstrom L, Reichenbach J, Seger R, Ariga T, Hara T, Miyawaki T, Nonovama_S.
  • Journal Title: J Allergy Clin Immunol. Epub ahead of print.
• [Journal Article] Quantification of K-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, Sato H, Yamada M, Kondoh K, Okada S, Kobayashi M, Agematsu K, Takada H, Mitsuiki N, Oshima K, Ohara O, Suri D, Rawat A, Singh S, Pan-Hammarstrom Q, Hammarstrom L, Reichenbach J, Seger R, Ariga T, Hara T, Miyawaki T, Nonoyama S.
  • Journal Title: Journal of Allergy and Clinical Immunology Volume: (未定)
  • Peer Reviewed
• [Journal Article] Hematopoietic stem cell transplantation in patients with severe congenital neutropenia:An analysis of 18 Japanese cases. (2010)
  • Author(s): Oshima K, Hanada R, Kobayashi R, Kato K, Nagatoshi Y, Tabuchi K, Kato S.
  • Journal Title: Pediatr Transplant. 14 Pages: 657-663
• [Journal Article] A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan. (2010)
  • Author(s): Oshima K, Yamazaki K, Nakaiima Y, Kobayashi A, Kate T, Ohara O, Agematsu K.
  • Journal Title: Mod Rheumatol. 20 Pages: 193-195
  • NAID: 10027169046
• [Journal Article] Hematopoietic stem cell transplantation in patients with severe congenital neutropenia : An analysis of 18 Japanese cases (2010)
  • Author(s): Oshima K, Hanada R, Kobayashi R, Kato K, Nagatoshi Y, Tabuchi K, Kato S
  • Journal Title: Pediatric Transplantation Volume: 14 Pages: 657-663
  • Peer Reviewed
• [Journal Article] A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan (2010)
  • Author(s): Oshima K, Yamazaki K, Nakajima Y, Kobayashi A, Kato T, Ohara O, Agematsu K
  • Journal Title: Modern Rheumatology Volume: 20 Pages: 193-195
  • NAID: 10027169046
  • Peer Reviewed