Q271P occurred within a specific pocket of the STAT1 coiled-coil domain, near residues essential for dephosphorylation, and was identified in a German patient who presented at 1 year of age with autosomal dominant chronic mucocutaneous candidiasis, showed signs of thyroid autoimmunity, and died at age 41 from squamous cell carcinoma [57,58]. The gene discussed is STAT1; the disease is autoimmune thyroid disease.