Association of common variable immunodeficiency and rare and complex connective tissue and musculoskeletal diseases. A systematic literature review

Abstract

Objective. To perform a systematic literature review (SLR) on the association of common variable immunodeficiency (CVID) and rare and complex connective tissue and musculoskeletal diseases, namely systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), idiopathic inflammatory myopathies (IIM), systemic sclerosis (SSc), relapsing polychondritis, antiphospholipid syndrome, immunoglobulin (Ig) G4-related disease, as well as undifferentiated and mixed connective tissue disease.Methods. An SLR on studies and cases about the association of CVID and rare and complex connective tissue and musculoskeletal diseases was performed. Animal studies were excluded. Results. 170 publications fulfilled the inclusion criteria. Sjögren's syndrome was the most frequent connective tissue disease in CVID-patients. Most case reports exist on SLE and CVID with SLE mostly preceding the manifestation of CVID. Multiple cases were published reporting the concurrence of CVID and inclusion body myositis and single cases were found on CVID and antisynthetase syndrome, polymyositis, limited SSc and relapsing polychondritis, respectively. There are no cases of CVID and antiphospholipid syndrome, IgG4-related disease, as well as undifferentiated and mixed connective tissue disease. Conclusion. The concurrence of CVID and complex connective tissue and musculoskeletal diseases, especially SS, IIM, SSc and relapsing polychondritis is rare but relevant. The measurements of Ig-levels should be performed before the initiation of immunosuppressive therapy to allow for the differentiation of primary and secondary Ig-deficiency and substitute IG if necessary.

Primary antibody deficiency-associated arthritis shares features with spondyloarthritis and enteropathic arthritis

“…manifestations in XLA and isolated IgG subclass deficiency, respectively. [5][6][7][8] However, inflammatory arthritis remains a poorly characterised manifestation of PADs. In the present study, we aimed to establish the prevalence of inflammatory arthritis in a German cohort of patients with PADs and characterise its clinical, laboratory and radiological features.…”

“… 4 Rheumatic disorders and especially inflammatory arthritis have also been reported in X-linked agammaglobulinaemia (XLA) and isolated IgG subclass deficiency. 5–8 …”

“…4 Rheumatic disorders and especially inflammatory arthritis have also been reported in X-linked agammaglobulinaemia (XLA) and isolated IgG subclass deficiency. [5][6][7][8] Previous studies have reported a varying prevalence of inflammatory arthritis in CVID, ranging from 1% to 11.5% in different patient cohorts. [9][10][11][12] Rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA) have been commonly reported in CVID.…”

“…Further, CVID is associated with rheumatic articular and connective tissue diseases 4. Rheumatic disorders and especially inflammatory arthritis have also been reported in X-linked agammaglobulinaemia (XLA) and isolated IgG subclass deficiency 5–8…”

“…Rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA) have been commonly reported in CVID 12–14. Polyarticular JIA and RA have been reported to represent relatively common autoimmune manifestations in XLA and isolated IgG subclass deficiency, respectively 5–8. However, inflammatory arthritis remains a poorly characterised manifestation of PADs.…”