Medicine (Baltimore) 2016 Mar;95(9):e2918
From the Primary Immunodeficiency Care and Research (PICAR) Institute (W-IL, J-LH) and Division of Allergy, Asthma, and Rheumatology, Department of Pediatrics, Chang Gung Memorial Hospital, Chang Gung University College of Medicine (W-IL, J-LH, T-HJ, L-SO); and Division of Gastroenterology (C-CC), Division of Genetics and Endocrinology (J-LL), Division of Hematology/Oncology, Department of Pediatrics (T-HJ), and Department Pathology, Chang Gung Memorial Hospital (R-CW), Taoyuan, Taiwan.
Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare, autosomal recessive and severe bowel disorder mainly caused by mutations in the tetratricopeptide repeat domain 37 (TTC37) gene which act as heterotetrameric cofactors to enhance aberrant mRNAs decay. The phenotype and immune profiles of SD/THE overlap those of primary immunodeficiency diseases (PIDs). Neonates with intractable diarrhea underwent immunologic assessments including immunoglobulin levels, lymphocyte subsets, lymphocyte proliferation, superoxide production, and IL-10 signaling function. Read More