| Brain-lung-thyroid syndrome with interstitial lung disease due to NKX2-1/TTF1 gene mutations |
| Connective tissue disease (eg, systemic lupus erythematosus, polymyositis/dermatomyositis, systemic sclerosis, mixed connective tissue disease, or systemic juvenile idiopathic arthritis) |
| Dyskeratosis congenita (bone marrow hypoplasia, often with skin, nail, and mucosal changes) |
| Immunodeficiency and lymphoproliferative disorders (usually with histologic patterns of lymphocytic interstitial pneumonia or follicular bronchiolitis) |
| Langerhans cell histiocytosis |
| Lymphatic disorders |
| Storage diseases (Niemann-Pick, mucopolysaccharidosis, others) |
| Malignancies |
| Neurocutaneous syndromes |
| Other inborn errors of metabolism (lysinuric protein intolerance) |
| Sarcoidosis |
NKX2-1/TTF1: gene encoding thyroid transcription factor 1.
* A spectrum of lung disease phenotypes, including abnormal lung development, has been reported in association with NKX2-1/TTF1 gene mutations.