Gastrointestinal manifestations in immunodeficiencies with monogenic origin

• Published in: Orvosi hetilap Vol. 159; no. 49; p. 2050
• Main Authors: Veres, Gábor, Gaál, Zsuzsanna
• Format: Journal Article
• Language: Hungarian
• Published: Hungary 01.12.2018
• Subjects: Child; Gastrointestinal Tract - pathology; Genetic Predisposition to Disease; Humans; Inflammation - diagnosis; Inflammation - etiology; Inflammatory Bowel Diseases - genetics; Inflammatory Bowel Diseases - pathology; Intestine, Small - pathology; VEO-IBD-immunológia; genetics; gastrointestinal manifestations; monogénes immundefektusok; VEO-IBD immunology; epigenetika; genetika; immunodeficiency with monogenic origin; gastrointestinalis manifesztációk; epigenetics
• ISSN: 0030-6002
• DOI: 10.1556/650.2018.31275

Although very early onset inflammatory bowel disease that develops in early childhood (before the age of 6 years) has a different etiology from Crohn's disease and ulcerative colitis, it is also characterized by chronic inflammation of the gastrointestinal tract. Basically, very early onset inflammatory bowel disease should be considered as an immunodeficiency with monogenic origin where both gastrointestinal manifestations and symptoms of immunodeficiencies may develop in variable combinations. However, in the future, the evaluation of genetic alterations in the background of the disease will probably be performed by next-generation sequencing technology; one should also consider that the sequence of the DNA stands in continuous interaction with a wide variety of environmental effects, among which nutrition should be emphasized by all means. Epigenetic alterations that are induced by environmental factors, could contribute to the pathogenesis of inflammatory bowel diseases that develop during childhood, therefore, they should also be identified during further research. It has a key significance to establish the diagnosis of very early onset inflammatory bowel disease as early as possible, because this could give the opportunity to start the adequate treatment which is bone marrow transplantation in the case of monogenic immunodeficiencies. Orv Hetil. 2018; 159(49): 2050-2056.