STAT5B deficiency due to a novel missense mutation in the coiled-coil domain

A novel homozygous missense mutation in the coiled-coil domain of STAT5B causes an immunodeficiency syndrome characterised by short stature due to GH insensitivity, immune dysregulation and hypothyroidism but currently without pulmonary disease or T-cell lymphopenia.

from #Head and Neck by Sfakianakis via simeraentaxei on Inoreader https://ift.tt/2wWfmwF