Respiratory Manifestations of Immune Dysregulation: From Immunodeficiency to Autoimmunity

Dear Colleagues,

Genetic defects affecting immune cell development or function are called inborn errors of immunity (IEIs). IEIs encompass a broad range of conditions, from immunodeficiencies to immune dysregulation disorders resulting in the development of autoimmune, autoinflammatory, and allergic diseases, as well as neoplasms. Pulmonary involvement in IEIs can evolve in an extremely variable manner depending on the lung compartments that are affected, including the airways, alveolar space, interstitium, vascular system, and pleural space. Airway involvement is primarily characterized by a greater susceptibility to opportunistic infections, including bacteria (i.e., Streptococcus pneumoniae and Haemophilus influenzae), viruses, atypical organisms, fungi, and parasites, which can lead to gradual lung destruction. Diffuse involvement of the distal lung parenchyma is dependent on the onset of interstitial lung disease (ILD) and interstitial pneumonia. Autoinflammatory syndromes, particularly familial Mediterranean fever and tumor necrosis factor receptor-associated periodic syndrome, may present with polyserositis and may occur in the course of systemic autoimmune diseases and immune dysregulation. The pulmonary manifestations of IEI are highly relevant in all age groups. However, it is important to pay particular attention to the pediatric population, since initial manifestations often occur during childhood. For this reason, genetic testing represents an essential diagnostic tool for the identification of molecular defects linked to IEIs. An organized diagnostic pathway allows for a clear diagnosis of IEI with visceral involvement, including pulmonary involvement, and can suggest appropriate management options. Therefore, the involvement of a team of pulmonologists, immunologists, allergists, rheumatologists, and infectious disease specialists is recommended for the careful management of these complex conditions.

Given these premises, this Special Issue aims to open the discussion on the various scientific hypotheses that correlate immunodeficiency, immune dysregulation, and autoimmunity.

Dr. Giuseppe Murdaca
Prof. Dr. Sebastiano Gangemi
Guest Editors

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• pneumonia
• airway inflammation
• respiratory infection
• respiratory viruses
• mucosal immunity