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

Tài liệu tham khảo

Hanson EP, Monaco-Shawver L, Solt LA, et al. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol. 2008;122(6):1169–77. Doffinger R, Smahi A, Bessia C, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet. 2001;27(3):277–85. Orange JS, Brodeur SR, Jain A, Bonilla FA, Schneider LC, Kretschmer R, et al. Deficient natural killer cell cytotoxicity in patients with IKK-c/NEMO mutations. J Clin Invest. 2002;109:1501–9. Conte MI, Pescatore A, Paciolla M, Esposito E, Miano MG, et al. Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. Hum Mutat. 2014;35(2):165–77. Kawai T, Nishikomori R, Heike T. Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with Immunodeficiency. Allergol Int. 2012;61(2):207–217.
Thông tin
Thông tin xuất bản

Springer Science and Business Media LLC

Tập 37

7-11

Thông tin tác giả