Autoimmunity in common variable immunodeficiency: a systematic review and meta-analysis

Area of Science:

• Immunology
• Clinical Medicine
• Genetics

Background:

• Common Variable Immunodeficiency (CVID) is a primary immunodeficiency with diverse clinical presentations.
• Autoimmunity is frequently observed in CVID patients, impacting disease course and management.
• Understanding the prevalence and characteristics of autoimmunity in CVID is essential for improving patient outcomes.

Purpose of the Study:

• To systematically review and pool data on the prevalence of autoimmunity in patients with Common Variable Immunodeficiency (CVID).
• To identify specific autoimmune conditions associated with CVID.
• To explore clinical and immunological differences between CVID patients with and without autoimmunity.

Main Methods:

• A systematic literature search was conducted across Web of Science, Scopus, and PubMed databases up to February 2020.
• Random-effects models were used to calculate pooled prevalence estimates and 95% confidence intervals (CI) for autoimmunity.
• Statistical analyses compared clinical and immunological parameters between CVID patients with and without autoimmunity.

Main Results:

• The overall prevalence of autoimmunity in CVID patients was 29.8% (95% CI: 26.4-33.3).
• Prevalence rates for specific autoimmune conditions included hematologic (18.9%), gastrointestinal (11.5%), rheumatologic (6.4%), skin (5.9%), and endocrinopathy (2.5%).
• CVID patients with autoimmunity showed higher rates of failure to thrive, organomegaly, enteropathy, and meningitis, and lower lymphocyte and T-cell counts compared to those without autoimmunity.

Conclusions:

• Autoimmunity is a significant and common comorbidity in Common Variable Immunodeficiency (CVID), sometimes presenting as the initial or sole manifestation.
• Healthcare providers should consider the frequent co-occurrence of CVID and autoimmunity, as this association can be a diagnostic challenge.
• Further attention to the interplay between CVID and autoimmune diseases is warranted for improved clinical care.