None of our patients presented with symptoms of severe immune dysfunction normally associated with STAT5B deficiency20, although the majority of carriers of the identified STAT5B variants had eczema (Fig. 1a), Proband 3 had autoimmune thyroiditis and celiac disease which were successfully controlled, and Proband 1 had childhood bronchial asthma. Here, STAT5B is linked to autoimmune thyroid disease.