Background
Signal transduction and activation of transcription 5B (STAT5B) protein is involved in signal transduction of growth hormone (GH) receptor and mediates actions of IL-2 and hence, plays an essential role in growth and immunity. Mutations in STAT5B gene are associated with growth failure, immunodeficiency, autoimmunity and diffuse lung disease (DLD) (1).
Lung involvement in STAT5B mutations or deficiency has been reported predominantly because of recurrent pulmonary infections or lymphoid interstitial pneumonitis (LIP) (2). We report a case of an adolescent girl with a novel mutation in STAT5B gene who presented with DLD along with autoimmunity (celiac disease), CD8 cell deficiency and GH insensitivity (GHI).