Dr. Maeshima, et al, reply.

To the Editor: We have read the comments by Goulielmos, et al 1 regarding the structural significance of the signal transducer and activator of transcription 1 ( STAT1 ) gain-of-function (GOF) c.970T>C (p.C324R) mutation, in the DNA binding domain (DBD) of STAT1 protein. Based on the results of an in silico analysis, Goulielmos, et al have proposed that the replacement of this position by a positively charged arginine residue triggers a heavily modified interaction of STAT1 with the DNA residues through the change of loop 325–332 structure. First, we are very grateful for the comments by Goulielmos, et al because their structural data1 strengthen our understanding of the pathogenesis of several clinical phenotypes of our case. To date, 12 patients carrying the C324R mutation in STAT1 have been identified2,3, … Address correspondence to Dr. K. Maeshima, Department of Endocrinology, Metabolism, Rheumatology and Nephrology, Faculty of Medicine, Oita University, 1-1 Idaigaoka, Hasama-machi, Yufu, Oita, 879-5593, Japan. E-mail: maeshima{at}oita-u.ac.jp