Pulmonary Manifestations of Common Variable Immunodeficiency

Area of Science:

• Immunology
• Pulmonology
• Genetics

Background:

• Common variable immunodeficiency (CVID) is frequently linked to severe chronic lung disease.
• Lung manifestations significantly impact patient morbidity and mortality in CVID.
• Kabuki syndrome can present with CVID-like immune dysfunction and associated lung disease.

Purpose of the Study:

• To detail the clinical, radiological, and pathological features of lung diseases associated with CVID.
• To highlight the spectrum of pulmonary complications in CVID patients.
• To increase awareness of CVID-associated lung disease, including in genetic syndromes like Kabuki syndrome.

Main Methods:

• Review of clinical data from patients with CVID and lung disease.
• Analysis of radiological imaging findings (e.g., CT scans).
• Pathological examination of lung tissues.

Main Results:

• CVID-associated lung diseases encompass airway disease, interstitial lung disease, and lymphoid malignancies (lymphoma, MALT lymphoma).
• Kabuki syndrome patients may exhibit CVID-like immune abnormalities and consequent lung pathology.
• Specific patterns of lung involvement were observed across different CVID phenotypes.

Conclusions:

• Recognizing the diverse lung manifestations in CVID is essential for accurate diagnosis.
• Timely identification of CVID-associated lung disease aids in prognosis assessment and therapeutic strategy.
• Consideration of CVID in patients with unexplained lung disease, and vice versa, is warranted.