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Spectrum of Phenotypes Associated with Mutations in LRBA.
- Source :
- Journal of Clinical Immunology; Jan2016, Vol. 36 Issue 1, p33-45, 13p
- Publication Year :
- 2016
-
Abstract
- To date, several germline mutations have been identified in the LRBA gene in patients suffering from a variety of clinical symptoms. These mutations abolish the expression of the LRBA protein, leading to autoimmunity, chronic diarrhea, B-cell deficiency, hypogammaglobulinemia, functional T-cell defects and aberrant autophagy. We review the clinical and laboratory features of patients with LRBA mutations and present five novel mutations in eight patients suffering from a multitude of clinical features. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 02719142
- Volume :
- 36
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Journal of Clinical Immunology
- Publication Type :
- Academic Journal
- Accession number :
- 112356537
- Full Text :
- https://doi.org/10.1007/s10875-015-0224-7