Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

Conclusions NPC1 confers increased risk of early-onset severe CD. Our data support the concept that genetic defects at different checkpoints of selective autophagy cause a shared outcome of CD-like immunopathology linking monogenic and polygenic forms of IBD. Muramyl dipeptide-driven cytokine responses and antibacterial autophagy induction are parallel and independent signalling cascades downstream of the NOD2-RIPK2-XIAP complex.
Source: Gut - Category: Gastroenterology Authors: Tags: Crohn's disease, Open access Inflammatory bowel disease Source Type: research

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Source: Gastrointestinal Endoscopy - Category: Gastroenterology Authors: Tags: Letter to the Editor Source Type: research
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Source: Acta Cirurgica Brasileira - Category: Surgery Authors: Tags: Acta Cir Bras Source Type: research
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Source: Journal of Vascular and Interventional Radiology : JVIR - Category: Radiology Authors: Tags: Scientific e-Poster Source Type: research
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Source: Neuromodulation: Technology at the Neural Interface - Category: Biotechnology Authors: Tags: Clinical Research Source Type: research
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Charlea Armstead's genetic disorder puts Victoria Lambert in mind of a fragile octogenarian. Not so her extraordinary spirit
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