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).