Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds
- Author
- SOLOGUREN, Ithaisa1 ; BOISSON-DUPUIS, Stéphanie4 5 ; SANTIAGO, Esther1 ; XIAOFEI KONG5 ; JANNIERE, Lucile4 ; COLINO, Elena12 ; HERRERA-RAMOS, Estefanía1 ; FRANCES, Adela13 ; NAVARRETE, Carmen16 ; BLANCHE, Stéphane11 ; FARIA, Emilia17 ; REMISZEWSKI, Pawet19 ; PESTANO, Jose6 ; CORDEIRO, Ana18 ; FREEMAN, Alexandra20 ; HOLLAND, Steven20 ; ABARCA, Katia21 ; VALERON-LEMAUR, Mónica14 ; GONCALO-MARQUES, José22 ; SILVEIRA, Luisa23 ; GARCIA-CASTELLANO, José Manuel15 2 ; CAMINERO, José3 ; PEREZ-ARELLANO, José Luis13 8 ; BENOIT VINCENT, Quentin4 ; BUSTAMANTE, Jacinta4 ; ABEL, Laurent4 ; CASANOVA, Jean-Laurent11 4 5 ; RODRIGUEZ-GALLEGO, Carlos1 8 9 ; FERNANDEZ-PEREZ, Leandro7 ; CHAPGIER, Ariane4 ; CARDENES, Maria1 9 ; FEINBERG, Jacqueline4 ; GARCIA-LAORDEN, M. Isabel1 ; PICARD, Capucine10 4
[1] Department of Immunology, Gran Canaria Dr Negrín University Hospital, Las Palmas de Gran Canaria, Spain
[2] Laboratory of Molecular Oncology, Research Unit, Gran Canaria Dr Negrín University Hospital, Las Palmas de Gran Canaria, Spain
[3] Department of Respiratory Diseases, Gran Canaria Dr Negrín University Hospital, Las Palmas de Gran Canaria, Spain
[4] Laboratory of Human Genetics of Infectious Diseases, Necker Faculty, INSERM U980, Necker Medical School, University Paris Descartes, Paris, France
[5] St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States
[6] Department of Biochemistry, Molecular Biology, Physiology, Genetics and Immunology, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain
[7] Department of Clinical Sciences-Pharmacology Unit, Molecular and Translational Endocrinology Group, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain
[8] Department of Medical and Surgical Sciences, School of Medicine, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain
[9] Canarian Institute for Cancer Research, La Laguna, Santa Cruz de Tenerife, Spain
[10] Study Center of Primary Immunodeficiencies, Assistance Publique Hôpitaux de Paris, Necker Hospital, Paris, France
[11] Pediatric Immunology and Hematology Unit, Assistance Publique Hôpitaux de Paris, Necker Hospital, Paris, France
[12] Department of Pediatrics, Unit of Infectious Diseases, Insular-Materno Infantil Hospital, Las Palmas de Gran Canaria, Spain
[13] Department of Infectious Diseases, Insular-Materno Infantil Hospital, Las Palmas de Gran Canaria, Spain
[14] Pediatric Intensive Care Unit, Insular-Materno Infantil Hospital, Las Palmas de Gran Canaria, Spain
[15] Department of Orthopedic Surgery, Insular-Materno Infantil Hospital, Las Palmas de Gran Canaria, Spain
[16] Department of Immunology, Hospital de Niños Roberto del Río, Santiago de Chile, Chile
[17] Primary Immunodeficiency Consultation, Coimbra Pediatric Hospital, Coimbra, Portugal
[18] Department of Medicine, Coimbra Pediatric Hospital, Coimbra, Portugal
[19] Illrd Department of Lung Diseases, National Tuberculosis and Chest Diseases Research Institute, Warsaw, Poland
[20] Laboratory of Clinical Infectious Diseases, National Institutes of Health, Bethesda, MA, United States
[21] Department of Pediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Santiago de Chile, Chile
[22] Department of Pediatric Infectious Diseases, Santa Maria-Centro Hospitalar Lisboa Norte Hospital, Lisbon, Portugal
[23] Department of Pediatrics, Santo Espirito de Angra do Heroísmo EPE Hospital, Angra do Heroismo, Portugal - Source
Human molecular genetics (Print). 2011, Vol 20, Num 8, pp 1509-1523, 15 p ; ref : 55 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Déficit Forme clinique Génétique Homme Interféron Maladie héréditaire Partiel
- Keyword (en)
- Deficiency Clinical form Genetics Human Interferon Genetic disease Partial
- Keyword (es)
- Déficiencia Forma clínica Genética Hombre Interferón Enfermedad hereditaria Parcial
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 24021137
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1093/hmg/ddr029 
https://dx.doi.org/10.1093/hmg/ddr029
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arXiv access
