title: Nonclassic Inflammatory Bowel Disease in Young Infants: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome, and Other Disorders.
abstract: This article discusses non-classical forms of inflammatory bowel disease (IBD) mainly occurs in infants and very young children. Defects in every aspect of the immune system, such as neutrophils, T-cell and B-cell lymphocytes, and macrophages are associated with IBD in infants. Also, non lympho-hematopoietic defects with primary defects in enterocytes can also lead to IBD-like manifestations. Clinical vignettes are presented and the genetic origins and possible management strategies are outlined. Early evaluation of these patients is important because identification of underlying immune defects would facilitate the use of better-targeted therapy for the specific genetic defect.
authors.affiliation: Department of Pediatrics, Children's Health Care of Atlanta, Emory University School of Medicine, Atlanta, GA, USA; Division of Hematology, Oncology and BMT, Emory University School of Medicine, Atlanta, GA, USA.
authors.forename: Shanmuganathan
authors.initials: S
authors.lastname: Chandrakasan
authors.affiliation: Department of Pediatrics, Children's Health Care of Atlanta, Emory University School of Medicine, Atlanta, GA, USA; Division of Pediatric Gastroenterology, Emory University School of Medicine, Atlanta, GA, USA.
authors.forename: Suresh
authors.initials: S
authors.lastname: Venkateswaran
authors.affiliation: Department of Pediatrics, Children's Health Care of Atlanta, Emory University School of Medicine, Atlanta, GA, USA; Division of Gastroenterology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: skugath@emory.edu.
authors.forename: Subra
authors.initials: S
authors.lastname: Kugathasan
mesh_terms: D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000628:therapy; D003937:Diagnosis, Differential; D003967:Diarrhea / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D042241:Early Diagnosis; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D006801:Humans; D007154:Immune System Diseases / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000628:therapy; D007223:Infant; D015212:Inflammatory Bowel Diseases / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000628:therapy
keywords: Epithelial barrier defects; IL-10 defects; IPEX; Inflammasome; Neutrophil defects; T cell or B cell defects; Very early onset IBD (VEO-IBD)