%0 Journal Article
%T Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
%A Andrew J. Skelton
%A Angela Grainger
%A David J. Swan
%A Florian Gothe
%A Joseph D.P. Willet
%A Karin R. Engelhardt
%A Meghan J. Acres
%A Sonya Galcheva
%A Sophie Hambleton
%A Suzy Leech
%A Violeta Iotova
%J Journal of Allergy and Clinical Immunology
%D 2019
%R 10.1016/j.jaci.2018.08.032
%X 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).
%U https://www.jacionline.org/article/S0091-6749(18)31280-6/abstract