Interstitial lung diseases are a heterogeneous group of disorders that are poorly understood
at a molecular level. 1, 2 The cause is often unknown, and the histologic diagnoses used in …

Interstitial lung diseases in infants and children are uncommon and may be caused by
specific inborn errors of surfactant metabolism. Five children with open lung biopsy …

34 Rybicki BA, Maliarik MJ, Malvitz E, et al. The influence of T cell receptor and cytokine
genes on sarcoidosis susceptibility in African Americans. Hum Immunol 1999; 60: 867–874 …

Familial pulmonary fibrosis is a heterogeneous group of interstitial lung diseases of
unknown cause that is associated with multiple pathologic subsets. Mutations in the …

Objective: To determine the contribution of surfactant protein abnormalities to the
development of chronic lung injury in a familial form of interstitial lung disease. Study design …

Nonspecific interstitial pneumonia, a recently described form of idiopathic interstitial
pneumonia, is characterized by uniform involvement of the alveolar septae with interstitial …

OBJECTIVE: To determine the contribution of the surfactant protein C (SP-C) I73T mutation
to lung disease. STUDY DESIGN: Genomic DNA was obtained from 116 children with …

Background: Mutations in the surfactant protein C gene (SFTPC) have been recently
associated with the development of diffuse lung disease, particularly sporadic and familial …

Mutations in the surfactant protein (SP)-C gene are responsible for familial and sporadic
interstitial lung disease (ILD). The consequences of such mutations on pulmonary surfactant …

Background: While idiopathic pulmonary fibrosis (IPF) is one of the most common forms of
interstitial lung disease, the aetiology of IPF is poorly understood. Familial cases of …