A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive TH17 immunity-Reference-Cited by-同舟云学术

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A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive TH17 immunity

Published:2018-12 Issue:6 Volume:142 Page:1968-1971
ISSN:0091-6749
Container-title:Journal of Allergy and Clinical Immunology
language:en
Short-container-title:Journal of Allergy and Clinical Immunology

Author:

De Bruyne Marieke,Bogaert Delfien J.,Venken Koen,Van den Bossche Lien,Bonroy Carolien,Roels Lisa,Tavernier Simon J.,van de Vijver Els,Driessen Ann,van Gijn Marielle,Gámez-Diaz Laura,Elewaut Dirk,Grimbacher Bodo,Haerynck Filomeen,Moes Nicolette,Dullaers Melissa

Funder

Ghent University Hospital

Jeffrey Modell Foundation

Research Foundation Flanders

FWO

Ghent University

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference9 articles.

1. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency;Alangari;J Allergy Clin Immunol,2012

2. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity;Lopez-Herrera;Am J Hum Genet,2012

3. Spectrum of phenotypes associated with mutations in LRBA;Alkhairy;J Clin Immunol,2016

4. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency;Gámez-Díaz;J Allergy Clin Immunol,2016

5. AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy;Lo;Science,2015

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1. Analysis of LRBA pathogenic variants and the association with functional protein domains and clinical presentation;Pediatric Allergy and Immunology;2024-06

2. Potential protein–phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients;World Journal of Clinical Cases;2021-07-26

3. Genetic Predisposition and its Heredity in the Context of Increased Prevalence of Dermatophytoses;Mycopathologia;2021-02-01

4. Evaluation of Expression of LRBA and CTLA-4 Proteins in Common Variable Immunodeficiency Patients;Immunological Investigations;2020-11-15

5.

Increased MMP8 Levels in Atopic Chronic Obstructive Pulmonary Disease: A Study Testing Multiple Immune Factors in Atopic and Non-Atopic Patients

;International Journal of Chronic Obstructive Pulmonary Disease;2020-07

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