Associated Papers
Loss-of-function of lipopolysaccharide-responsive beige-like anchor protein causes inflammatory bowel disease-a case report and literature review.
Wang Z et al.
Translational Pediatrics, 2025
Whole-exome sequencing to identify undiagnosed primary immunodeficiency disorders in children with community-acquired sepsis, admitted in the pediatric intensive care unit.
Rayzan E et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023
Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.
Tang WJ et al.
World Journal of Clinical Cases, 2021
A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.
Cagdas D et al.
Journal of Clinical Immunology, 2019
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
Multiple Presentations of LRBA Deficiency: a Single-Center Experience.
Kostel Bal S et al.
Journal of Clinical Immunology, 2017
Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study.
Azizi G et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2017
CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.
Lo B et al.
Blood, 2016
Spectrum of Phenotypes Associated with Mutations in LRBA.
Alkhairy OK et al.
Journal of Clinical Immunology, 2016
Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype.
Serwas NK et al.
Inflammatory Bowel Diseases, 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