Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis?

Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency causes common variable immunodeficiency (CVID) disorders and autoimmunity. LRBA deficiency has become a clinically variable syndrome with a wide spectrum of clinical manifestations. We report a patient with LRBA deficiency as...

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Veröffentlicht in:Clinical and experimental rheumatology 2017-03, Vol.35 (2), p.327-329
Hauptverfasser: Al-Mayouf, Sulaiman M, Naji, Hamzah, Alismail, Khalid, Alazami, Anas M, Sheikh, Farrukh, Conca, Walter, Al-Mousa, Hamoud
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container_end_page 329
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container_title Clinical and experimental rheumatology
container_volume 35
creator Al-Mayouf, Sulaiman M
Naji, Hamzah
Alismail, Khalid
Alazami, Anas M
Sheikh, Farrukh
Conca, Walter
Al-Mousa, Hamoud
description Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency causes common variable immunodeficiency (CVID) disorders and autoimmunity. LRBA deficiency has become a clinically variable syndrome with a wide spectrum of clinical manifestations. We report a patient with LRBA deficiency associated chronic non-erosive arthritis. This report highlights the spectrum of arthritis in such patients and the potential causative role of LRBA gene in juvenile arthritis.
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source MEDLINE; Alma/SFX Local Collection
subjects Abatacept - administration & dosage
Adaptor Proteins, Signal Transducing - deficiency
Adaptor Proteins, Signal Transducing - genetics
Adaptor Proteins, Signal Transducing - immunology
Adolescent
Arthritis, Juvenile - diagnosis
Arthritis, Juvenile - drug therapy
Arthritis, Juvenile - genetics
Arthritis, Juvenile - immunology
Arthrography
Chronic Disease
Common Variable Immunodeficiency - diagnosis
Common Variable Immunodeficiency - drug therapy
Common Variable Immunodeficiency - genetics
Common Variable Immunodeficiency - immunology
DNA Mutational Analysis
Genetic Predisposition to Disease
Humans
Immunosuppressive Agents - administration & dosage
Knee Joint - diagnostic imaging
Magnetic Resonance Imaging
Male
Mutation
Phenotype
Treatment Outcome
title Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis?
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