Elizabeth A Worthey, Alan N Mayer, Grant D Syverson, Daniel Helbling, Benedetta B Bonacci, Brennan Decker, Jaime M Serpe, Trivikram Dasu, Michael R Tschannen, Regan L Veith, Monica J Basehore, Ulrich Broeckel, Aoy Tomita-Mitchell, Marjorie J Arca, James T Casper, David A Margolis, David P Bick, Martin J Hessner, John M Routes, James W Verbsky, Howard J Jacob, David P Dimmock
PURPOSE: We report a male child who presented at 15 months with perianal abscesses and proctitis, progressing to transmural pancolitis with colocutaneous fistulae, consistent with a Crohn disease-like illness. The age and severity of the presentation suggested an underlying immune defect; however, despite comprehensive clinical evaluation, we were unable to arrive at a definitive diagnosis, thereby restricting clinical management. METHODS: We sought to identify the causative mutation(s) through exome sequencing to provide the necessary additional information required for clinical management...
March 2011: Genetics in Medicine: Official Journal of the American College of Medical Genetics