Patients with monogenic immune dysregulation show improvement in childhood interstitial lung disease following targeted therapy -- a case series and single center approach

Abstract excerpt

In recent years, a number of monogenic disorders have been described that are characterized by immune dysregulation. A subset of these ‘primary immune regulatory disorders’ can cause severe interstitial lung disease, often recognized in late childhood or adolescence. Patients presenting to pulmonary clinic may have long and complex medical histories but lack a unifying genetic diagnosis. It is crucial for pulmonol...

Topics

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• Autoimmune Diseases
• Common Variable Immunodeficiency
• Genetic Testing
• Hereditary Autoinflammatory Diseases
• Immunologic Deficiency Syndromes
• Mutation
• Phenotype
• Rheumatic Diseases

Identifiers and source

Literature Corpus work

72b6e218-9b19-51ae-a8ac-0501faaae745

DOI

10.22541/au.163931277.75730521/v1