Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.T2388delFs
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LRBA

NM_001364905.1:p.T2388delFs

Associated Papers

Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.

Tang WJ et al.

World Journal of Clinical Cases, 2021

Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation.

Seidel MG et al.

The Journal of Allergy and Clinical Immunology, 2018

Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency.

Gámez-Díaz L et al.

Frontiers in Immunology, 2018

29740429 (PubMed )
Supplement: table_2.PDF

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

Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency.

Bakhtiar S et al.

Frontiers in Immunology, 2017

Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation.

Tesi B et al.

Journal of Clinical Immunology, 2016

Spectrum of Phenotypes Associated with Mutations in LRBA.

Alkhairy OK et al.

Journal of Clinical Immunology, 2016

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.

Gámez-Díaz L et al.

The Journal of Allergy and Clinical Immunology, 2016

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.

Seidel MG et al.

The Journal of Allergy and Clinical Immunology, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."