The pulmonary involvement in disorders of immune or inflammatory regulation can range from a primary manifestation such as with sarcoidosis or a relatively minor manifestations such as seen with the Mendelian Susceptibility to Mycobacterial Disease immune deficiencies. While both of these can be associated with granulomatous inflammation in the lung, the clinical pulmonary manifestations are quite different as are the management strategies. The Pulmonary Clinical Medicine Section (PCMS) has sought to capitalize on the close collaboration with the Laboratory of Clinical Infectious Diseases and other branches within the NIAID and NIAMS focused on these disorder to describe the pulmonary manifestations of known and emerging immune and inflammatory diseases. This has included characterizing the lung manifestations of newly described immune dysregulatory syndromes associated with mutations in such as cytotoxic T-lymphocyte-associated protein 4 (CTLA4) and phosphoinositide 3-kinase (PI3K)and well known and characterized disorders such as chronic granulomatous disease. The PCMS has been actively involved in characterizing the protean lung manifestations of GATA Binding Protein 2 (GATA2) deficiency have provided unique insight into the role of alveolar macrophage dysfunction in development of pulmonary alveolar proteinosis and intracellular control of mycobacteria and fungi in the lung. Ongoing work in this area include characterization of lung manifestations of Autoimmune Lymphoproliferative Syndrome (ALPS) and Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy (APECED) Syndrome.
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