The lung in inborn errors of immunity.

Area of Science:

• Immunology
• Pulmonology
• Medical Genetics

Background:

• The lungs play a critical role in immune defense.
• Inborn errors of immunity (IEI) commonly present with lung disease affecting airways, alveoli, interstitium, vasculature, and pleura.

Purpose of the Study:

• To outline the diagnostic and management strategies for lung complications in patients with inborn errors of immunity.
• To emphasize the importance of a multidisciplinary approach in addressing these complex conditions.

Main Methods:

• Clinical history and physical examination.
• High-resolution computed tomography (HRCT) for imaging patterns.
• Pulmonary function tests, bronchoscopy with bronchoalveolar lavage, and lung biopsy for respiratory assessment.
• Molecular diagnosis including clinical phenotyping, functional immune studies, and genetic testing.

Main Results:

• Accurate identification of lung disease patterns via HRCT guides further evaluation.
• Molecular diagnosis is essential for identifying immune defects and guiding targeted therapies.
• A multidisciplinary approach is necessary due to the complexity of IEI.

Conclusions:

• Integrated diagnostic approaches combining clinical, imaging, and molecular data are crucial for managing lung complications in IEI.
• Ongoing research is needed to improve therapies and patient outcomes for lung manifestations of IEI.