Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia.

Although inflammatory bowel disease is a well-described feature of glycogen storage disease type Ib, it has been reported in only a small number of individuals with glycogen storage disease type Ia (GSDIa). We describe, to our knowledge, the first patient with GSDIa and very early-onset inflammatory bowel disease (VEO-IBD). Larger studies are needed to better understand this possible association, elucidate the mechanism of VEO-IBD in GSDIa, and inform management.

Structured Reporting of Magnetic Resonance Enterography for Pediatric Crohn's Disease: Effect on Key Feature Reporting and Subjective Assessment of Disease by Referring Physicians.

Purpose: To objectively compare the content of structured reports (SR) vs nonstructured reports (NSR) for magnetic resonance enterography (MRE) of pediatric patients with Crohn's disease, and to evaluate referring clinicians' subjective assessment of reports.

Methods: This institutional review board-approved, Health Insurance Portability and Accountability Act-compliant retrospective study included 25 pediatric subjects (15 male, 10 female; mean age = 14 years [range: 9-18 years]) with Crohn's disease imaged with MRE. Three radiologists independently interpreted all examinations using both NSR and SR, separated by 4 weeks.

African-derived genetic polymorphisms in TNFAIP3 mediate risk for autoimmunity.

The TNF alpha-induced protein 3 (TNFAIP3) is an ubiquitin-modifying enzyme and an essential negative regulator of inflammation. Genome-wide association studies have implicated the TNFAIP3 locus in susceptibility to autoimmune disorders in European cohorts, including rheumatoid arthritis, coronary artery disease, psoriasis, celiac disease, type 1 diabetes, inflammatory bowel disease, and systemic lupus erythematosus (SLE). There are two nonsynonymous coding polymorphisms in the deubiquitinating (DUB) domain of TNFAIP3: F127C, which is in high-linkage disequilibrium with reported SLE-risk variants, and A125V, which has not been previously studied.