@Article{Kierkuś2013,
journal="Gastroenterology Review/Przegląd Gastroenterologiczny",
issn="1895-5770",
volume="8",
number="3",
year="2013",
title="Interleukin-10 receptor deficiency in a Polish paediatric patient with early onset inflammatory bowel disease",
abstract="Inflammatory bowel disease (IBD), which includes Crohn's disease (CD) and ulcerative colitis (UC), is a chronic condition characterized by abdominal pain, diarrhoea, bleeding, and malabsorption. The disease is common in young people (children and young adults) yet it is rather rare in children younger than 2 years. A distinct phenotype of early onset IBD (EO-IBD) in infants and small children with severe intractable enterocolitis and greater tendency to develop colonic disease has been described. Recent work has demonstrated that EO-IBD with manifestation in the first months of life can be monogenic, resulting from mutations in interleukin-10 (IL-10) or its receptor and leading to a loss of IL-10 function. Allogeneic haematopoietic stem cell transplantation (HSCT) can be a successful treatment for those patients. We present here a case of a female IL-10R-deficient patient with severe EO-IBD who underwent HSCT.",
author="Kierkuś, Jarosław
and Szczepański, Michał
and Gliwicz, Dorota
and Dądalski, Maciej
and Kotlarz, Daniel
and Klein, Christofer
and Ryżko, Józef
and Socha, Piotr",
pages="202--205",
doi="10.5114/pg.2013.36336",
url="http://dx.doi.org/10.5114/pg.2013.36336"
}