Interstitial lung disease in an adolescent child associated with a novel
STAT5B mutation-a case report
Abstract
STAT5B protein is an important component of signalling pathway for
growth hormone and IL-2 mediated responses. Mutation in STAT5B gene has
been reported to be associated with growth hormone insensitivity,
immunodeficiency and autoimmunity. Chronic pulmonary involvement is also
one component of the disorder. We describe a case an adolescent girl who
suffered with poor growth and loose stools since 1 year of age and was
subsequently diagnosed with celiac disease and hypothyroidism. She
developed features of interstitial lung disease (ILD) which were
progressively worsening. Common causes of ILD were ruled out on
investigations. She underwent whole exome sequencing and found to be
positive for a novel mutation in STAT5B gene on exon 16. On further
evaluation, she had growth hormone insensitivity and CD8 cell
deficiency. This case highlights that in a child with chronic pulmonary
involvement with features suggestive of growth hormone insensitivity,
immunodeficiency and autoimmunity, evaluation for STAT5B mutation should
be thought of.