Background/Purpose:

Patients with common variable immunodeficiency (CVID) have a higher incidence of rheumatologic disorders. To delineate this clinical association, we investigated the phenotypical features of patients with CVID affected by these conditions.

Methods:

We conducted a retrospective analysis of 870 pediatric and adult patients with CVID included in the United States Immunodeficiency Network (USIDNET) registry. Outcomes included clinical characteristics (age, gender, ethnicity, rheumatologic diagnosis, comorbidities) and basic immunophenotype (immunoglobulin levels, T- and B- cell counts) in patients with rheumatologic disorders compared with those with non-inflammatory CVID. Demographic and clinical data were compared using chi-square, Fisher’s exact or Wilcoxon-Mann-Whitney tests. For immunological variables, Generalized Estimating Equations (GEE) regression models were built to evaluate the relationship between IgA, IgM, CD19+ B-cell counts and CD4/CD8 ratios and CVID-associated rheumatologic disorders.

Results:

Physician-reported rheumatic diseases were present in 5.9% of patients with CVID (n=51) included in the registry. Although CVID affects both sexes equally, there were more females (3.3:1 female to male ratio) in the rheumatic disease group (p<0.05). Specific disorders included: inflammatory arthritis (n=18), Sjogren’s syndrome (n=11), SLE (n=8), Raynaud’s syndrome (n=8), medium and small vessel vasculitis (n=8), MCTD (n=3), other (n=5). There were no significant differences in the frequency of other CVID complications such as bronchiectasis between the two groups (p>0.05). Additionally, no significant differences in immunoglobulin levels (IgA and IgM), CD19+ B-cells counts or CD4/CD8 ratio were detected.

Conclusion:

These results highlight the coexistence of primary antibody disorders and systemic autoimmune diseases. Importantly, hypergammaglobulinemic, autoantibody-associated disorders such as Sjogren’s syndrome and SLE were among the most common, demonstrating that they can occur even in the setting of a primary antibody deficiency. Basic immunophenotypical parameters demonstrated no significant differences, although characteristics such as specific T- and B-cell subpopulations were not evaluated. Finally, the female predominance in the rheumatic disease group, brings into question whether sex-related factors may play a role in the development of certain CVID manifestations. This study has several limitations, namely the retrospective nature of the analysis, variable amounts of missing data and lack of confirmation of rheumatic diagnosis using current classification data. Nonetheless, these findings should raise awareness for primary antibody immunodeficiencies among patients with rheumatic disorders. Delineating the link between systemic autoimmunity and humoral immunodeficiencies can also provide novel insights into the immune abnormalities underlying these related conditions.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/phenotypical-features-of-patients-with-rheumatologic-manifestations-of-common-variable-immunodeficiency/