Whole-exome sequencing in a subject with fluctuating neuropsychiatric symptoms, immunoglobulin G1 deficiency, and subsequent development of Crohn’s disease: a case report

• Published in: Journal of medical case reports Vol. 16; no. 1; pp. 187 - 6
• Main Authors: Jyonouchi, Harumi, Geng, Lee
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 11.05.2022; BioMed Central; BMC
• Subjects: Abdomen; Adalimumab; Anxiety; Case Report; Case reports; Corticosteroids; Crohn's disease; Cytokines; Families & family life; Fatigue; Genetic aspects; Genetic polymorphisms; Headaches; Health aspects; Homeostasis; Immune response; Immunoglobulins; Inflammatory bowel disease; Interleukin-1β; Interleukins; IRF2BP2; Monoclonal antibodies; Mutation; NLRP12; Patients; Remission (Medicine); Tumor necrosis factor-α; Whole-exome sequencing; NLRP12; Pediatric acute-onset neuropsychiatric syndrome; Interleukin-1β; Whole-exome sequencing; IRF2BP2; Tumor necrosis factor-α; Crohn’s disease

Mutations or polymorphisms of genes that are associated with inflammasome functions are known to predispose individuals to Crohn's disease and likely affect clinical presentations and responses to therapeutic agents in patients with Crohn's disease. The presence of additional gene mutation...