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

Sulaiman M Al-Mayouf; Hamzah Naji; Khalid Alismail; Anas M Alazami; Farrukh Sheikh; Walter Conca; Hamoud Al-Mousa

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

Clin Exp Rheumatol. 2017 Mar-Apr;35(2):327-329. Epub 2017 Jan 27.

Authors

Sulaiman M Al-Mayouf¹, Hamzah Naji², Khalid Alismail³, Anas M Alazami⁴, Farrukh Sheikh⁵, Walter Conca⁶, Hamoud Al-Mousa⁷

Affiliations

¹ Dept.of Paediatrics, Rheumatology; Dept.of Paediatrics, Allergy & Immunology; Dept.of Medicine, Allergy & Immunology; Dept.of Medicine, Rheumatology; Dept.of Genetics; Dept.of Radiology, King Faisal Specialist Hosp.and Res. Centre, Riyadh, Saudi Arabia.
² Alfaisal University, Riyadh, Saudi Arabia.
³ Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
⁴ Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
⁵ Department of Medicine, Allergy and Immunology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
⁶ Department of Medicine, Rheumatology, King Faisal Specialist Hospital and Research Centre; and Alfaisal University, Riyadh, Saudi Arabia.
⁷ Department of Paediatrics, Allergy and Immunology, King Faisal Specialist Hospital and Research Centre; and Alfaisal University, Riyadh, Saudi Arabia.

PMID: 28134088

Abstract

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.

Publication types

Case Reports

MeSH terms

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

Substances

Adaptor Proteins, Signal Transducing
Immunosuppressive Agents
Abatacept
LRBA protein, human