Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.I2646S
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LRBA

NM_001364905.1:p.I2646S

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

Treatment of inborn errors of immunity patients with inflammatory bowel disease phenotype by allogeneic stem cell transplantation.

Moser LM et al.

British Journal of Haematology, 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

Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients.

Shamriz O et al.

European Journal of Pediatrics, 2018

Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency.

Azizi G et al.

Immunological Investigations, 2018

29528757 (PubMed )
Supplement: supplement_1.pdf

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

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

Kostel Bal S et al.

Journal of Clinical Immunology, 2017

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

Spectrum of Phenotypes Associated with Mutations in LRBA.

Alkhairy OK et al.

Journal of Clinical Immunology, 2016

Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation.

Revel-Vilk S et al.

Clinical Immunology (orlando, Fla.), 2015

Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype.

Serwas NK et al.

Inflammatory Bowel Diseases, 2015

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

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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."