作者： Manuela Zlamy ; Giovanni Almanzar ; Walther Parson ; Christian Schmidt…

关键词：Thymectomy ; Naive T cells ; CD8 ; TRECs ; Telomeres ; TCR diversity ; CMV

刊名：Immunity & Ageing

出版年：2016

作者：Jay P. Patel (1)
Jennifer M. Puck (2)
Rajgopal Srinivasan (3)
Christina Brown (4)
Uma Sunderam (3)
Kunal Kundu (3)
Steven E. Brenner (5)
Richard A. Gatti (4)
Joseph A. Church (6)

1. Division of General Pediatrics ; Children鈥檚 Hospital of Los Angeles ; Los Angeles ; CA ; USA
2. Department of Pediatrics and Institute for Human Genetics ; University of California ; San Francisco and UCSF Benioff Children鈥檚 Hospital ; San Francisco ; CA ; USA
3. Tata Consultancy Services Ltd. ; Hyderabad ; Telengana ; India
4. Departments of Human Genetics and Pathology & Laboratory Medicine ; David Geffen School of Medicine ; University of California ; Los Angeles ; CA ; USA
5. Department of Plant and Microbial Biology ; University of California ; Berkeley ; CA ; USA
6. Division of Clinical Immunology and Allergy ; Children鈥檚 Hospital of Los Angeles ; Keck School of Medicine ; University of Southern California ; Los Angeles ; CA ; USA

关键词：Nijmegen breakage syndrome ; TREC ; SCID ; exome sequencing ; nibrin ; T lymphopenia

刊名：Journal of Clinical Immunology

出版年：2015

作者：Tamaki Kato (1)
Elena Crestani (2)
Chikako Kamae (1)
Kenichi Honma (1)
Tomoko Yokosuka (3)
Takeshi Ikegawa (4)
Naonori Nishida (5)
Hirokazu Kanegane (5) (6)
Taizo Wada (7)
Akihiro Yachie (7)
Osamu Ohara (8) (9)
Tomohiro Morio (6)
Luigi D. Notarangelo (2)
Kohsuke Imai (1) (6)
Shigeaki Nonoyama (1)

1. Department of Pediatrics ; National Defense Medical College ; Tokorozawa ; Saitama ; Japan
2. Division of Immunology ; Children鈥檚 Hospital Boston ; Harvard Medical School ; Boston ; MA ; USA
3. Department of Hemato-oncology/Regeneration Medicine ; Kanagawa Children鈥檚 Medical Center ; Yokohama ; Kanagawa ; Japan
4. Department of Pediatrics ; Yokohama Rosai Hospital ; Yokohama ; Kanagawa ; Japan
5. Department of Pediatrics ; University of Toyama ; Toyama ; Japan
6. Department of Pediatrics ; Tokyo Medical and Dental University (TMDU) ; 1-5-45 ; Yushima ; Bunkyo-ku ; Tokyo ; 113-8519 ; Japan
7. Department of Pediatrics ; Kanazawa University ; Kanazawa ; Ishikawa ; Japan
8. Laboratory for Integrative Genomics ; RIKEN Center for Integrative Medical Sciences ; Yokohama ; Kanagawa ; Japan
9. Department of Technology Development ; Kazusa DNA Research Institute ; Kisarazu ; Chiba ; Japan

关键词：RAG1 deficiency ; IgA deficiency ; TRECs ; KRECs ; primary immunodeficiency ; V(D)J recombination

刊名：Journal of Clinical Immunology

出版年：2015

作者： Diti Machnes-Maayan ; Atar Lev ; Uriel Katz ; David Mishali…

关键词：Thymus ; Immunodeficiency ; Regulatory T cells (Tregs) ; FOXP3 ; T cell receptor excision circles (TRECs) ; T cell receptor (TCR)

刊名：Immunologic Research

出版年：2015

作者： Kiran A. Gul ; Torstein ?verland ; Liv Osnes…

关键词：T ; cell receptor excision circles ; 22q11.2 deletion syndrome ; cardiac defect ; thymus ; newborn screening

刊名：Journal of Clinical Immunology

出版年：2015

作者： Jet van der Spek ; Rolf H. H. Groenwold…

关键词：Severe Combined Immunodeficiency ; T ; cell lymphopenia ; newborn screening ; T ; cell receptor excisions circles ; screening algorithm ; systematic review

刊名：Journal of Clinical Immunology

出版年：2015

作者：Stuart P. Adams (1) (3) (4)
Samina Rashid (2)
Tharindu Premachandra (1)
Katie Harvey (2)
Adeboye Ifederu (2)
Melanie C. Wilson (1)
H. Bobby Gaspar (3)

关键词：SCID ; TRECs ; newborn screening ; Guthrie cards

刊名：Journal of Clinical Immunology

出版年：2014

作者：Beth H. Vogel (3)
Vincent Bonagura (2)
Geoffrey A. Weinberg (6)
Mark Ballow (1)
Jason Isabelle (3)
Lisa DiAntonio (3)
April Parker (3)
Allison Young (3)
Charlotte Cunningham-Rundles (5)
Chin-To Fong (6)
Jocelyn Celestin (4)
Heather Lehman (1)
Arye Rubinstein (7)
Subhadra Siegel (8)
Leonard Weiner (9)
Carlos Saavedra-Matiz (3)
Denise M. Kay (3)
Michele Caggana (3)

关键词：Severe Combined Immunodeficiency ; newborn screening ; DiGeorge syndrome ; idiopathic T ; cell lymphopenia

刊名：Journal of Clinical Immunology

出版年：2014

作者：Matan Kraus (1)
Atar Lev (1)
Amos J. Simon (1)
Inbal Levran (2)
Andrea Nissenkorn (3)
Yonit B. Levi (4)
Yackov Berkun (5)
Ori Efrati (6)
Ninette Amariglio (7)
Gideon Rechavi (7)
Raz Somech (8)

关键词：Ataxia telangiectasia ; ATM ; Combined immunodeficiency ; Kappa ; deleting recombination excision circles ; KREC ; T cell recombination excision circles ; TREC

刊名：Journal of Clinical Immunology

出版年：2014

作者：Leena Kainulainen (1)
Olli Lassila (2)
Olli Ruuskanen (1)

关键词：Cartilage hair hypoplasia ; specific antibody deficiency ; immunodeficiency

刊名：Journal of Clinical Immunology

出版年：2014