Associated Papers
Beyond the stop: Oxadiazole TRIDs restore LRBA protein expression in nonsense-driven primary immunodeficiency.
Fiduccia I et al.
Molecular Therapy. Nucleic Acids, 2026
A precision medicine approach to primary immunodeficiency disease: Ataluren strikes nonsense mutations once again.
Lentini L et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
Baxter SK et al.
The Journal of Allergy and Clinical Immunology, 2022
Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.
Tang WJ et al.
World Journal of Clinical Cases, 2021
LRBA deficiency: a rare cause of type 1 diabetes, colitis, and severe immunodeficiency.
Kardelen AD et al.
Hormones (athens, Greece), 2021
Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency.
Azizi G et al.
Immunological Investigations, 2018
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G et al.
Frontiers in Immunology, 2018
The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.
Vogl C et al.
Embo Reports, 2017
Multiple Presentations of LRBA Deficiency: a Single-Center Experience.
Kostel Bal S et al.
Journal of Clinical Immunology, 2017
CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.
Lo B et al.
Blood, 2016
Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.
Keller MD et al.
The Journal of Allergy and Clinical Immunology, 2016
Spectrum of Phenotypes Associated with Mutations in LRBA.
Alkhairy OK et al.
Journal of Clinical Immunology, 2016
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van Schouwenburg PA et al.
Clinical Immunology (orlando, Fla.), 2015
New facets of antibody deficiencies.
Liadaki K et al.
Current Opinion in Immunology, 2013
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.
Lopez-Herrera G et al.
American Journal of Human Genetics, 2012
Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency.
Kiykim A et al.
The Journal of Allergy and Clinical Immunology. in Practice, 0