ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters.

Uettwiller, F; Sarrabay, G; Rodero, M P; Rice, G I; Lagrue, E; Marot, Y; Deiva, K; Touitou, I; Crow, Y J; Quartier, P

Uettwiller, F; Sarrabay, G; Rodero, M P; Rice, G I; Lagrue, E; Marot, Y; Deiva, K; Touitou, I; Crow, Y J; Quartier, P.

Afiliação

Uettwiller F; Pediatric Immunology-Hematology and Rheumatology Unit, Institut Imagine, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Transversal Unit of Allergology and Rheumatology, CHRU Tours, Tours, France.
Sarrabay G; Laboratory of Rare and Autoinflammatory Genetic Diseases , CHRU , Montpellier , France.
Rodero MP; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Hôpital Necker, Paris Descartes-Sorbonne Paris Cité University , Paris , France.
Rice GI; Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester , Manchester , UK.
Lagrue E; Inserm U930, CNRS 2448, Tours, France; Service Neuropédiatrie et Handicaps, CHRU de Tours, Tours, France.
Marot Y; Pediatric Emergency Unit , CHRU Tours , Tours , France.
Deiva K; Pediatric Neurology Department , National Referral Center for Neuro-Inflammatory Diseases in Children, Hôpitaux Universitaires Paris Sud, Assistance Publique-Hôpitaux de Paris and UMR 1184, Center for Immunology of viral infections and autoimmune diseases, University Paris Sud , Le Kremlin-Bicêtre ,
Touitou I; Laboratory of Rare and Autoinflammatory Genetic Diseases , CHRU , Montpellier , France.
Crow YJ; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Hôpital Necker, Paris Descartes-Sorbonne Paris Cité University, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Healt
Quartier P; Pediatric Immunology-Hematology and Rheumatology Unit , Institut Imagine, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris , Paris , France.

RMD Open ; 2(1): e000236, 2016.

Article em En | MEDLINE | ID: mdl-27252897

Palavras-chave

Fever Syndromes; Inflammation; Systemic vasculitis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: RMD Open Ano de publicação: 2016 Tipo de documento: Article País de afiliação: França

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