Common variable immunodeficiency and autoimmune diseases: A 10-year single-center experience

Area of Science:

• Immunology
• Rheumatology
• Hematology

Background:

• Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by low immunoglobulin levels and impaired B-cell function.
• Autoimmune diseases (ADs) are frequently observed in CVID patients, impacting their clinical presentation and prognosis.
• Understanding the interplay between CVID and ADs is crucial for timely diagnosis and management.

Purpose of the Study:

• To determine the frequency of ADs in CVID patients.
• To evaluate clinical, immunological, and organ manifestation differences between CVID patients with and without ADs.
• To assess the impact of ADs on malignancy and mortality in CVID.

Main Methods:

• Retrospective study of 85 CVID patients (2013-2023).
• Patients categorized into AD-CVID (+) and AD-CVID (-) groups.
• Comparison of clinical features, immunological markers, organ involvement, malignancy, and mortality.

Main Results:

• AD-CVID (+) group had a significantly longer diagnostic delay (84 months).
• Common ADs included cytopenias (e.g., immune thrombocytopenic purpura) and Sjögren syndrome.
• Lower class-switched memory B cell levels were noted in the AD-CVID (+) group; malignancy (non-Hodgkin lymphoma) was more frequent.

Conclusions:

• Adult CVID patients with ADs face diagnostic delays.
• Autoimmune conditions are more prevalent in CVID than in the general population.
• Increased physician awareness of autoimmune manifestations in CVID is essential to reduce diagnostic delays.