Abstract
Inflammatory bowel disease is a heterogeneous group of chronic inflammatory disorders with multifactorial ethilogy. They may be assigned as Crohn's disease or as Ulcerative colitis.
It is usually manifested between 15-30 years of age. Patients younger than 10 years are specific group with higher risk of the atypical and serisus course of the disease, insufficient response to treatment including TNFα inhibitors, higher prevalence of severe complications and siginificantly poorer prognosis.
Moreover, there is also significantly increased probability to reveal monogenic ethiology, which is very often associated with the genes having important regulatory function. Their dysfunction may lead to imune system dysregulation, development of chronic inflammation and broad spectrum of infectious and non-infectious complications belonging to the clinical picture of primary immunodeficiencies From this point of view, the early and appropriate diagnosis is crucial and allows us the initiation of specific or causal therapy in a number of them.
This approach leads to reduction a prevention of severe complications. Here, the collaboration of a gastroenterologist and a clinical immunologist is crucial.
The selected monogenic primary immunodeficincies manifesting particularly with gastrointestinal tract involvement are presented in following summary. Finally, two case reports from our department are presented.