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Paediatric rheumatology
Clinical case
ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

Authors

  • F Uettwiller 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 PubMed articlesGoogle scholar articles
  • G Sarrabay Laboratory of Rare and Autoinflammatory Genetic Diseases, CHRU, Montpellier, France PubMed articlesGoogle scholar articles
  • M P Rodero INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Hôpital Necker, Paris Descartes–Sorbonne Paris Cité University, Paris, France PubMed articlesGoogle scholar articles
  • G I Rice 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 PubMed articlesGoogle scholar articles
  • E Lagrue Inserm U930, CNRS 2448, Tours, France Service Neuropédiatrie et Handicaps, CHRU de Tours, Tours, France PubMed articlesGoogle scholar articles
  • Y Marot Pediatric Emergency Unit, CHRU Tours, Tours, France PubMed articlesGoogle scholar articles
  • K Deiva 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, France PubMed articlesGoogle scholar articles
  • I Touitou Laboratory of Rare and Autoinflammatory Genetic Diseases, CHRU, Montpellier, France PubMed articlesGoogle scholar articles
  • Y J Crow 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 Health Sciences Centre, University of Manchester, Manchester, UK PubMed articlesGoogle scholar articles
  • P Quartier Pediatric Immunology-Hematology and Rheumatology Unit, Institut Imagine, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr F Uettwiller; florence.uettwiller{at}aphp.fr
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Citation

Uettwiller F, Sarrabay G, Rodero MP, et al
ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters
RMD Open 2016;2:e000236. doi: 10.1136/rmdopen-2015-000236

Publication history

  • Received December 19, 2015
  • Revision received April 14, 2016
  • Accepted April 16, 2016
  • First published May 17, 2016.
Online issue publication 
July 18, 2023

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Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/