The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
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Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary ImmunodeficienciesAtypical Manifestation of LPS-Responsive Beige-Like Anchor Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and ImmunodeficiencyAdvances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood.Multifocal gastric adenocarcinoma in a patient with LRBA deficiency.Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.LRBA is Essential for Allogeneic Responses in Bone Marrow TransplantationUp, Down, and All Around: Diagnosis and Treatment of Novel STAT3 Variant.14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency.Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations.Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study.Optimal Management of Autoimmune Lymphoproliferative Syndrome in Children.Genes associated with common variable immunodeficiency: one diagnosis to rule them all?CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.Lung Disease in Primary Antibody Deficiencies.Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study.Autoimmunity in Primary Antibody Deficiencies.Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.Genetic cause of immune dysregulation - one gene or two?Inflammatory bowel disease caused by primary immunodeficiencies-Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm.The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation.Immunological phenotype of the murine Lrba knockout.Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation.X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis.Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort.Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golf to Olfactory Cilia.Multiple Presentations of LRBA Deficiency: a Single-Center Experience.Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency.Old and new faces of neutropenia in children.Preferential Reduction of Circulating Innate Lymphoid Cells Type 2 in Patients with Common Variable Immunodeficiency with Secondary Complications Is Part of a Broader Immune Dysregulation.Modeling primary immune regulatory disorders: Ferrari or Yugo?Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation.Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.From clinical observations and molecular dissection to novel therapeutic strategies for primary immunodeficiency disorders.An Exponential Regression Model Reveals the Continuous Development of B Cell Subpopulations Used as Reference Values in Children."Immune TOR-opathies," a Novel Disease Entity in Clinical Immunology.Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency.Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017.Increased Risk for Malignancies in 131 Affected Mutation Carriers
P2860
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P2860
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
@en
type
label
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
@en
prefLabel
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
@en
P2093
P50
P1476
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
@en
P2093
Austen J J Worth
Bernd H Belohradsky
Bodo Grimbacher
Dietrich August
Frank Van de Veerdonk
Jacob Blessing
Laura Gámez-Díaz
Maria Kanariou
Michael Jordan
Mitsuiki Noriko
P304
P356
10.1016/J.JACI.2015.09.025
P407
P577
2016-01-01T00:00:00Z