A Novel Inflammatory Autoimmune-Like NTRK1-Associated Phenotype in an Adult Man

The finding of an inflammatory autoimmune-like disease in the presented 40-year-old patient with a normal intelligence and a reduced sweating and pain sensation indicates that this phenotype represents, besides the typical serious infantile CIPA, a novel adult-onset clinical expression of the <i>NTRK1</i>-induced disease. In addition, the data here also support the recent suggestion that the defective NGF signaling of the neural, immune, and endocrine systems in CIPA may link this congenital disease to autoimmunity.