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

J Clin Immunol. 2017 Jan;37(1):7-11. doi: 10.1007/s10875-016-0350-x. Epub 2016 Nov 12.

Silvia Ricci¹, Francesca Romano², Francesco Nieddu², Capucine Picard^{3

4

5

6}, Chiara Azzari²

¹ Department of Pediatric Immunology, Jeffrey Modell Center for Primary Immunodeficiencies, University of Florence and Anna Meyer Children's University Hospital, viale Pieraccini 24, 50139, Florence, Italy. [email protected].
² Department of Pediatric Immunology, Jeffrey Modell Center for Primary Immunodeficiencies, University of Florence and Anna Meyer Children's University Hospital, viale Pieraccini 24, 50139, Florence, Italy.
³ St Giles Laboratory of Human Genetics Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065, USA.
⁴ Laboratory of Human Genetics Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Paris Descartes University, Paris, France.
⁵ Pediatric Hematology-Immunology Unit, AP-HO, Necker Hospital for Sick Children, Paris, France.
⁶ Center for the Study of Primary Immunodeficiences, AP-HP, Necker Hospital for Sick Children, Paris, France.

No abstract available

Publication types

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema