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J-GLOBAL ID：201902291289434957   Reference number：19A1650776

Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

NFKB2における損傷変異による原発性免疫不全症患者の臨床的および免疫学的表現型【JST・京大機械翻訳】

Author (33)： Klemann Christian (Department of Pediatric Pneumology, Allergy and Neonatology, Hannover Medical School, Hannover, Germany) ,  Klemann Christian (Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg, Freiburg, Germany) ,  Camacho-Ordonez Nadezhda (Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg, Freiburg, Germany) ,  Camacho-Ordonez Nadezhda (Faculty of Biology, University of Freiburg, Freiburg, Germany) ,  Yang Linlin (Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg, Freiburg, Germany) ,  Eskandarian Zoya (Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg, Freiburg, Germany) ,  Rojas-Restrepo Jessica L. (Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg, Freiburg, Germany) ,  Frede Natalie (Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg, Freiburg, Germany) ,  Bulashevska Alla (Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg, Freiburg, Germany) ,  Heeg Maximilian (Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg, Freiburg, Germany) ,  Heeg Maximilian (Faculty of Medicine, Center for Pediatrics, Medical Center-University of Freiburg, University of Freiburg, Freiburg, Germany) ,  Al-Ddafari Moudjahed Saleh (Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg, Freiburg, Germany) ,  Al-Ddafari Moudjahed Saleh (Laboratory of Applied Molecular Biology and Immunology, University of Tlemcen, Tlemcen, Algeria) ,  Premm Julian (Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg, Freiburg, Germany) ,  Seidl Maximilian (Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg, Freiburg, Germany) ,  Seidl Maximilian (Faculty of Medicine, Institute for Surgical Pathology, Medical Center-University of Freiburg, University of Freiburg, Freiburg, Germany) ,  Ammann Sandra (Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg, Freiburg, Germany) ,  Ammann Sandra (Cambridge Institute for Medical Research, Cambridge, United Kingdom) ,  Sherkat Roya (Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran) ,  Radhakrishnan Nita (Department of Pediatric Hematology Oncology, Super Speciality Pediatric Hospital and PG Teaching Institute, Noida, India) ,  Warnatz Klaus (Faculty of Medicine, Division Immunodeficiency (CCI), Department of Rheumatology and Clinical Immunology, Medical Center, University of Freiburg, Freiburg, Germany) ,  Unger Susanne (Faculty of Medicine, Division Immunodeficiency (CCI), Department of Rheumatology and Clinical Immunology, Medical Center, University of Freiburg, Freiburg, Germany) ,  Kobbe Robin (Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany) ,  Huefner Anja (Infectious Disease Unit, Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany) ,  Leahy T. Ronan (Department of Paediatric Immunology and Infectious Diseases, Our Lady’s Children’s Hospital Crumlin, Dublin, Ireland) ,  Ip Winnie (Infection, Immunity and Inflammation Theme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom) ,  Ip Winnie (Department of Immunology, Great Ormond Street Hospital, London, United Kingdom) ,  Burns Siobhan O. (University College London Institute of Immunity and Transplantation London, United Kingdom) ,  Burns Siobhan O. (Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom) ,  Fliegauf Manfred (Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg, Freiburg, Germany) ,  Fliegauf Manfred (CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany) ,  Grimbacher Bodo (Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg, Freiburg, Germany) ,  Grimbacher Bodo (CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany)
Material： Frontiers in Immunology (Web)
Volume： 10  Page： 297  Publication year： 2019 
JST Material Number： U7074A  ISSN： 1664-3224  Document type： Article
Article type： 原著論文  Country of issue： Switzerland (CHE)  Language： ENGLISH (EN)

Abstract/Point： Non-canonical NF-κB-pathway si...

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Thesaurus term： *human(primates) ,  *variation(biology) ,  *phenotype ,  immersional wetting ,  autoimmunity ,  autoantibody ,  *immunologic deficiency syndrome ,  differentiation(biology) ,  dysfunction ,  diarrhea ,  T cell ,  lymph ,  mutation
Semi thesaurus term： 悪性腫瘍 ,  発症 , 【Automatic Indexing@JST】

Author keywords (8)： CVID ,  CID ,  NF-kappaB signaling ,  DAVID-syndrome ,  deficiency of anterior pituitary function and variable immunodeficiency ,  NF-kappaB2 clinical cases ,  ACTH-deficiency ,  autoimmunity

JST classification (2)： Immunological reaction in general  (ED03010T) ,  Immunologic diseases,allergic diseases in general.  (GD04010C)

Reference (47)：

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• Cunningham-Rundles C. The many faces of common variable immunodeficiency. Hematol Am Soc Hematol Educ Progr. (2012) 2012:301-5. doi: 10.1182/asheducation-2012.1.301
• Bogaert DJA, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? J Med Genet. (2016) 53:575-90. doi: 10.1136/jmedgenet-2015-103690
• Gathmann B, Mahlaoui N, Gérard L, Oksenhendler E, Warnatz K, Schulze I, et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. (2014) 134:116-26.e11. doi: 10.1016/j.jaci.2013.12.1077
• Fliegauf M, Bryant LV, Frede N, Slade C, Woon S-T, Lehnert K, et al. Haploinsufficiency of the NF-κB1 Subunit p50 in common variable immunodeficiency. Am J Hum Genet. (2015) 97:389-403. doi: 10.1016/j.ajhg.2015.07.008

Terms in the title (7)： 損傷 ,  変異 ,  原発性免疫不全症 ,  患者 ,  臨床 ,  免疫学 ,  表現型