OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH

Springer Science and Business Media LLC - Tập 37 - Trang 7-11 - 2016
Silvia Ricci1, Francesca Romano1, Francesco Nieddu1, Capucine Picard2,3,4,5, Chiara Azzari1
1Department of Pediatric Immunology, Jeffrey Modell Center for Primary Immunodeficiencies, University of Florence and Anna Meyer Children’s University Hospital, Florence, Italy
2St Giles Laboratory of Human Genetics Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA
3Laboratory of Human Genetics Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Paris Descartes University, Paris, France
4Pediatric Hematology-Immunology Unit, AP-HO, Necker Hospital for Sick Children, Paris, France
5Center for the Study of Primary Immunodeficiences, AP-HP, Necker Hospital for Sick Children, Paris, France

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Springer Science and Business Media LLC

Tập 37

7-11

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