Common variable immunodeficiency: different faces of the same disease

Area of Science:

• Immunology
• Clinical Medicine

Background:

• Common variable immunodeficiency (CVID) is a primary humoral immunodeficiency affecting both children and adults.
• CVID is characterized by hypogammaglobulinaemia, recurrent infections, autoimmunity, allergies, and increased cancer risk.
• Significant diagnostic delays often lead to irreversible complications, highlighting the need for increased awareness.

Purpose of the Study:

• To describe the clinical and laboratory features of common variable immunodeficiency.
• To analyze the manifestations and diagnostic challenges in CVID patients.

Main Methods:

• Phenotypic analysis of 14 CVID patients (ages 5-58) including medical history, clinical symptoms, and immunological tests.
• Exclusion of secondary hypogammaglobulinaemia according to ESID guidelines.

Main Results:

• Median diagnostic delay was 5 years, shorter in children than adults.
• Infectious phenotypes like pneumonia and sinusitis were most common.
• Observed comorbidities included autoimmune diseases, allergies, cancers, and enteropathies.

Conclusions:

• Diagnostic delays in CVID remain a critical issue, particularly in adults, increasing the risk of severe complications.
• Early diagnosis and prompt treatment with immunoglobulins are crucial for reducing infection rates and improving patient outcomes.