Gastroenterologie
a hepatologie

Defective IL-10 signalling and very-early-onset inflammatory bowel disease

Renata Szépeová ^{Orcid.org  1}, Zuzana Havlíčeková ^{Orcid.org  2}, Peter Lietava³, Peter Bánovčin ^{Orcid.org  4}, Miloš Jeseňák ^{Orcid.org  1}

+ Affiliation
¹ Klinika detí a dorastu, Jesseniova lekárska fakulta v Martine, Univerzita Komenského v Bratislave, Univerzitná nemocnica Martin, Slovenská republika
² Klinika detí a dorastu, JLF UK a UN Martin
³ Interná klinika – gastroenterologická, Jesseniova lekárska fakulta v Martine, Univerzita Komenského v Bratislave, Univerzitná nemocnica Martin, Slovenská republika
⁴ Klinika detí a dorastu JLF UK a UN Martin

Summary

Children experiencing the onset of symptoms before the age of 2 have a specific position among patients with inflammatory bowel disorders. This is a heterogeneous group of diseases, often with a different etiopathogenesis, phenotype, treatment response and prognosis compared to diseases developing in older children or adults. Diseases that can mimic inflammatory bowel diseases, especially primary immunodeficiencies, should be excluded in this age group. Authors present a case report of a patient with very early onset of IBD unresponsive to conventional therapy, caused by point mutation of the IL10R gene.

Keywords

child, inflammatory bowel disease, interleukin-1, interleukín-10 receptor

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