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Spectrum of Phenotypes Associated with Mutations in LRBA
Omar K Alkhairy1,2, Hassan Abolhassani1,3, Nima Rezaei3,4
1Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
Journal of Clinical Immunology
|December 29, 2015
Summary
Lipid transfer protein 1 (LRBA) gene mutations cause severe immune deficiencies, including autoimmunity and B-cell defects. This review highlights clinical features and identifies five new LRBA mutations in eight patients.
Area of Science:
- Immunology
- Genetics
- Molecular Biology
Background:
- Germline mutations in the Lipopolysaccharide-responsive and beige-like anchor (LRBA) gene are associated with a spectrum of clinical manifestations.
- LRBA deficiency leads to impaired immune cell function and dysregulated cellular processes.
Observation:
- Patients with LRBA mutations present with diverse clinical symptoms including autoimmunity, chronic diarrhea, B-cell deficiency, hypogammaglobulinemia, and functional T-cell defects.
- Aberrant autophagy is a characteristic feature observed in individuals with LRBA deficiency.
Findings:
- This review consolidates the clinical and laboratory findings in patients diagnosed with LRBA mutations.
- Five novel mutations within the LRBA gene were identified in a cohort of eight patients, expanding the known mutational landscape.
Implications:
- Understanding LRBA mutations is crucial for accurate diagnosis and management of primary immunodeficiencies.
- Further research into LRBA's function may reveal new therapeutic targets for autoimmune and immune dysregulatory disorders.
Keywords:
Primary immunodeficiency disorders (PID)apoptosisautoimmune disease (AID)autophagychronic diarrhea (CD)common variable immunodeficiency (CVID)cytotoxic T-lymphocyte-associated protein 4 (CTLA4)hypogammaglobulinemia (HGG)lipopolysaccharide responsive beige-like anchor protein (LRBA)organomegaly (OM)regulatory T-cells (Treg)
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