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OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH.
- Source :
-
Journal of clinical immunology [J Clin Immunol] 2017 Jan; Vol. 37 (1), pp. 7-11. Date of Electronic Publication: 2016 Nov 12. - Publication Year :
- 2017
-
Abstract
- Competing Interests: The authors declare that they have no conflict of interest.
- Subjects :
- Ectodermal Dysplasia genetics
Fatal Outcome
Genetic Diseases, X-Linked genetics
Humans
Immunologic Deficiency Syndromes genetics
Infant
Lymphedema genetics
Lymphohistiocytosis, Hemophagocytic genetics
Male
NF-kappa B metabolism
Osteopetrosis genetics
Primary Immunodeficiency Diseases
Signal Transduction
Ectodermal Dysplasia diagnosis
Genetic Diseases, X-Linked diagnosis
I-kappa B Kinase genetics
Immunologic Deficiency Syndromes diagnosis
Lymphedema diagnosis
Lymphohistiocytosis, Hemophagocytic diagnosis
Mutation genetics
Osteopetrosis diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1573-2592
- Volume :
- 37
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Journal of clinical immunology
- Publication Type :
- Report
- Accession number :
- 27838798
- Full Text :
- https://doi.org/10.1007/s10875-016-0350-x