Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.R655*
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LRBA

NM_001364905.1:p.R655*

Associated Papers

Efficacy of abatacept treatment in a patient with enteropathy carrying a variant of unsignificance in CTLA4 gene: A case report.

Musabak U et al.

World Journal of Clinical Cases, 2023

Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?

Palmisani E et al.

Hemasphere, 2023

Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA.

Galati A et al.

International Journal of Environmental Research and Public Health, 2022

Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.

Miano M et al.

Frontiers in Immunology, 2022

Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease.

Fabozzi F et al.

Frontiers in Immunology, 2022

Unusual Late-onset Enteropathy in a Patient With Lipopolysaccharide-responsive Beige-like Anchor Protein Deficiency.

Maggiore R et al.

Journal of Pediatric Hematology/oncology, 2020

Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation.

Kutluǧ Ş et al.

Central-european Journal of 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

29867916 (PubMed )
Supplement: data_sheet_1.PDF

Multiple Presentations of LRBA Deficiency: a Single-Center Experience.

Kostel Bal S et al.

Journal of Clinical Immunology, 2017

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