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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 1/2017

Open Access 01-01-2017 | Letter to Editor

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

Authors: Silvia Ricci, Francesca Romano, Francesco Nieddu, Capucine Picard, Chiara Azzari

Published in: Journal of Clinical Immunology | Issue 1/2017

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Excerpt

To the Editor: …
Literature
1.
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.CrossRefPubMedPubMedCentral
2.
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.CrossRefPubMed
3.
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.CrossRefPubMedPubMedCentral
4.
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.CrossRefPubMed
5.
Kawai T, Nishikomori R, Heike T. Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with Immunodeficiency. Allergol Int. 2012;61(2):207–217.
Metadata
Title
OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH
Authors
Silvia Ricci
Francesca Romano
Francesco Nieddu
Capucine Picard
Chiara Azzari
Publication date
01-01-2017
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 1/2017
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-016-0350-x

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