Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.
作者:
Batsukh,Dorjbal [1]
;
Jeffrey R,Stinson [1]
;
Chi A,Ma [2]
;
Michael A,Weinreich [2]
;
Bahar,Miraghazadeh [3]
;
Julia M,Hartberger [4]
;
Stefanie,Frey-Jakobs [4]
;
Stephan,Weidinger [5]
;
Lena,Moebus [5]
;
Andre,Franke [6]
;
Alejandro A,Schäffer [7]
;
Alla,Bulashevska [4]
;
Sebastian,Fuchs [4]
;
Stephan,Ehl [4]
;
Sandhya,Limaye [8]
;
Peter D,Arkwright [9]
;
Tracy A,Briggs [9]
;
Claire,Langley [9]
;
Claire,Bethune [10]
;
Andrew F,Whyte [10]
;
Hana,Alachkar [11]
;
Sergey,Nejentsev [12]
;
Thomas,DiMaggio [2]
;
Celeste G,Nelson [2]
;
Kelly D,Stone [2]
;
Martha,Nason [13]
;
Erica H,Brittain [13]
;
Andrew J,Oler [14]
;
Daniel P,Veltri [14]
;
T Ronan,Leahy [15]
;
Niall,Conlon [16]
;
Maria C,Poli [17]
;
Arturo,Borzutzky [18]
;
Jeffrey I,Cohen [19]
;
Joie,Davis [20]
;
Michele P,Lambert [21]
;
Neil,Romberg [21]
;
Kathleen E,Sullivan [21]
;
Kenneth,Paris [22]
;
Alexandra F,Freeman [20]
;
Laura,Lucas [23]
;
Shanmuganathan,Chandrakasan [23]
;
Sinisa,Savic [24]
;
Sophie,Hambleton [25]
;
Smita Y,Patel [26]
;
Michael B,Jordan [27]
;
Amy,Theos [28]
;
Jeffrey,Lebensburger [29]
;
T Prescott,Atkinson [30]
;
Troy R,Torgerson [31]
;
Ivan K,Chinn [17]
;
Joshua D,Milner [2]
;
Bodo,Grimbacher [4]
;
Matthew C,Cook [3]
;
Andrew L,Snow [32]
作者单位:
Department of Pharmacology & Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, Md.
[1]
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
[2]
Department of Immunology, Canberra Hospital, Canberra, Australia; Centre for Personalised Immunology, John Curtin School of Medical Research, Australian National University, Canberra, Australia.
[3]
Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
[4]
Department of Dermatology, Venereology and Allergology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
[5]
Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
[6]
National Center for Biotechnology Information, National Institutes of Health, Department of Health and Human Services, Bethesda, Md.
[7]
Repatriation and General Hospital, Concord, Australia.
[8]
Paediatric Allergy and Immunology & the Manchester Center for Genomic Medicine, University of Manchester, Manchester, United Kingdom.
[9]
Department of Clinical Immunology, Plymouth Hospitals NHS Trust, Plymouth, United Kingdom.
[10]
Immunology, Salford Royal Foundation Trust, Manchester, United Kingdom.
[11]
Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
[12]
Biostatistics Research Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
[13]
Bioinformatics and Computational Sciences Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
[14]
Department of Paediatric Immunology and ID, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
[15]
Department of Immunology, St James's Hospital, Dublin, Ireland.
[16]
Department of Pediatrics, Baylor College of Medicine, and the Section of Immunology, Allergy, and Rheumatology, Texas Children's Hospital, Houston, Tex.
[17]
Department of Pediatrics, School of Medicine, Pontificia Universidad Catolica de Chile, Santiago, Chile.
[18]
Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
[19]
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
[20]
Division of Immunology and Allergy, Children's Hospital of Philadelphia, and the Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pa.
[21]
Louisiana State University Health Sciences Center and Children's Hospital, New Orleans, La.
[22]
Division of Bone Marrow Transplant, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Ga.
[23]
Leeds Institute for Rheumatic and Musculoskeletal Medicine, St James University Hospital, Leeds, United Kingdom.
[24]
Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
[25]
Oxford University Hospitals NHS Trust and NIHR Oxford Biomedical Research Centre, Oxford, United Kingdom.
[26]
Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio.
[27]
Department of Dermatology, University of Alabama at Birmingham, Birmingham, Ala.
[28]
Department of Pediatric Hematology Oncology, University of Alabama at Birmingham, Birmingham, Ala.
[29]
Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Ala.
[30]
University of Washington School of Medicine and Seattle Children's Hospital, Seattle, Wash.
[31]
Department of Pharmacology & Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, Md. Electronic address: andrew.snow@usuhs.edu.
[32]
主题词
成年人(Adult);CARD信号接头蛋白质类(CARD Signaling Adaptor Proteins);女(雌)性(Female);鸟苷酸环化酶(Guanylate Cyclase);人类(Humans);免疫系统疾病(Immune System Diseases);男(雄)性(Male);突变(Mutation);表型(Phenotype)
DOI
10.1016/j.jaci.2018.08.013
PMID
30170123
发布时间
2024-03-20
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The Journal of allergy and clinical immunology
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