Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain

We report a 17-year-old boy who presented with growth hormone (GH)-refractory growth failure (Fig 1, A), severe eczema (Fig 1, B), and autoimmunity. He was born to consanguineous parents at term with normal gestational weight (3.4？kg) and length (51？cm). He initially presented with autoimmune thyroiditis at age 4？years, with symptoms of lethargy, poor growth, delayed bone age, and constipation (Fig 1, C), confirmed by high titers of antithyroid peroxidase antibodies (>1000 IU/L; normal range, <34 IU/L) and antithyroglobulin antibodies (680 IU/L; normal range, <100 IU/L).