Spectrum of Phenotypes Associated with Mutations in LRBA
- 28 December 2015
- journal article
- review article
- Published by Springer Science and Business Media LLC in Journal of Clinical Immunology
- Vol. 36 (1), 33-45
- https://doi.org/10.1007/s10875-015-0224-7
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.Funding Information
- Jeffery Modell Foundation
- Swedish Research Council
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