Autoinflammatory Diseases Predominantly Affecting the Gastrointestinal Tract

Glocker, Erik-Oliver; Speckmann, Carsten

doi:10.1016/b978-0-12-405546-9.00026-1

Cited by 1 publication

(1 citation statement)

References 60 publications

(68 reference statements)

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“…Disorders of excessive inflammatory macrophage activation, such as phospholipase Cγ2 defects or familial Mediterranean fever, X‐linked lymphoproliferative syndrome types 1 and 2 or familial hemophagocytic lymphohistiocytosis (HLH) type 5, Hermansky–Pudlak syndrome (types 1, 4 and 6), and mevalonate kinase deficiency, can present with IBD‐like features 23 . Mutations in X‐linked inactivator of apoptosis ( XIAP ) result in a rare, severe form of primary immunodeficiency disorder (X‐linked lymphoproliferative syndrome 2) characterized by HLH, which is associated with severe fistulizing perianal colonic phenotype at an early age.…”

Section: Monogenic Disorders Presenting As Ibdmentioning

confidence: 99%

Immune‐mediated inflammatory diseases of the gastrointestinal tract: Beyond Crohn's disease and ulcerative colitis

et al. 2022

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Immune‐mediated inflammatory diseases (IMIDs) are a diverse group of complex inflammatory diseases that result from dysregulated immune pathways and can involve any system of the human body. Inflammatory bowel disease (IBD) is one such disease involving the gastrointestinal (GI) system. With high prevalence in the West and increasing incidence in newly industrialized countries, IBD poses a significant burden on health care. IMIDs of the GI system other than IBD can have similar clinical features, causing diagnostic and therapeutic challenges. Although these disorders share a common pathophysiology, the defects can occur anywhere in the complex network of cytokines, inflammatory mediators, and innate and adaptive systems, leading to unregulated inflammation. Precise knowledge about them will help determine the possible targeted therapy. Thus, it is essential to distinguish these disorders from IBD. This review describes various IMIDs of the GI tract that mimic IBD.

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Section: Monogenic Disorders Presenting As Ibdmentioning

confidence: 99%