Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients
- Auteur
- OUEDERNI, Monia1 ; VINCENT, Quentin B2 3 ; BRUNEAU, Julie2 8 ; DEBRE, Marianne1 ; BLANCHE, Stéphane1 2 ; ABEL, Laurent2 3 ; CASANOVA, Jean-Laurent1 3 4 5 6 7 8 9 ; FISCHER, Alain1 2 6 ; PICARD, Capucine10 2 3 ; FRANGE, Pierre1 ; TOUZOT, Fabien1 ; SCERRA, Sami4 ; BEJAOUI, Mohamed5 ; BOUSFIHA, Aziz6 ; LEVY, Yves4 ; LISOWSKA-GROSPIERRE, Barbara7 ; CANIONI, Danielle2 8
[1] Pediatric Hematology-Immunology Unit, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital, Paris, France
[2] Paris Descartes University, Sorbonne Paris Cite, Paris, France
[3] Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U980, Paris, France
[4] Immunology Clinical Unit, AP-HP, Mondor Hospital, Creteil, France
[5] National Bone Marrow Transplantation Center, Jebel Lakhdar, Tunis, Tunisia
[6] Clinical Immunology Unit, Department of Pediatrics, Centre Hospitalier Universitaire Ibn Rochd, King Hassan II University, Casablanca, Morocco
[7] Inserm U768, Paris, France
[8] Pathology Department, AP-HP, Necker Hospital, Paris, France
[9] St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States
[10] Study Center for Primary Immunodeficiencies, AP-HP, Necker Hospital, Paris, France - Source
Blood. 2011, Vol 118, Num 19, pp 5108-5118, 11 p ; ref : 50 ref
- ISSN
- 0006-4971
- Domaine scientifique
- Medical oncology; Hematology
- Editeur
- Americain Society of Hematology, Washington, DC
- Pays de publication
- United States
- Type de document
- Article
- Langue
- English
- Mot clé (fr)
- Antigène histocompatibilité classe II Déficit Enquête Génétique Homme Hématologie Mutation
- Mot clé (en)
- Class II histocompatibility antigen Deficiency Survey Genetics Human Hematology Mutation
- Mot clé (es)
- Antígeno histocompatibilidad clase II Déficiencia Encuesta Genética Hombre Hematología Mutación
- Classification
- Discipline
- Blood diseases
- Provenance
- Inist-CNRS
- Base de données
- PASCAL
- Identifiant INIST
- 24745794
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
10.1182/blood-2011-05-352716 
https://dx.doi.org/10.1182/blood-2011-05-352716
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