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Abbreviation : LRBA
Long Form : lipopolysaccharide-responsive beige-like anchor
No. Year Title Co-occurring Abbreviation
2019 G2-lymphocyte chromosomal radiosensitivity in patients with LPS responsive beige-like anchor protein (LRBA) deficiency. ---
2018 Acquired Pure Red Cell Aplasia and Acquired Amegakaryocytic Thrombocytopenia Associated With Clonal Expansion of T-Cell Large Granular Lymphocytes in a Patient With Lipopolysaccharide-responsive Beige-like Anchor (LRBA) Protein Deficiency. ---
2018 Identification of Variants in RET and IHH Pathway Members inaLarge Family With History of Hirschsprung Disease. GLI3, HSCR, IHH, MAB21L2, RET
2018 Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency. ---
2018 Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients. LPS
2018 The imbalance of circulating T helper subsets and regulatory T cells in patients with LRBA deficiency: Correlation with disease severity. HCs, IFN-gamma, IL, Th, Treg
2017 Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis? CVID
2017 Immunological phenotype of the murine Lrba knockout. CTLA-4, IgM, LCMV
2017 Multifocal gastric adenocarcinoma in a patient with LRBA deficiency. CTLA4
10  2017 Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation. CTLA-4, GC
11  2017 The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing. ---
12  2017 Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency. allo-HSCT, IBD
13  2016 Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation. T1DM
14  2016 LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. ---
15  2015 Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. IBDs, IL
16  2014 Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment. PIDs
17  2012 Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. ---