[Chronic or severe enteropathy and immunodeficiency: be prepared for a rara avis].

Autor:	Weber K; Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, Dresden, Germany., Zeißig Y; Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, Dresden, Germany., Haag C; Universitätsklinikum Carl Gustav Carus Medizinische Klinik und Poliklinik I, Dresden, Germany., Schmelz R; Universitätsklinikum Carl Gustav Carus Medizinische Klinik und Poliklinik I, Dresden, Germany., Pazmandi J; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria., Kalinichenko A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria., Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; St. Anna Kinderspital und Universitätsklinik für Kinder und Jugendliche, Medizinische Universitat Wien, Wien, Austria.; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria., Zeißig S; Center for Regenerative Therapies Dresden, Dresden, Germany.; Klinik und Poliklinik für Innere Medizin I, Universitätsklinikum Carl Gustav Carus, Dresden, Germany., Aust D; Institut für Pathologie, Universitätsklinikum Carl Gustav Carus, Dresden, Germany., Laass MW; Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, Dresden, Germany., Schuetz C; Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, Dresden, Germany.
Jazyk:	němčina
Zdroj:	Zeitschrift fur Gastroenterologie [Z Gastroenterol] 2022 Nov; Vol. 60 (11), pp. 1668-1677. Date of Electronic Publication: 2022 Mar 16.
DOI:	10.1055/a-1709-5024
Abstrakt:	In the work-up of chronic enteropathies an underlying inborn error of immunity (IEI) should be considered in certain cases. IEI are rare, but approximately 10% of patients may present with symptoms of inflammatory bowel disease (IBD), which is a much more common entity. Patients with IEI associated IBD may show extraintestinal symptoms or signs, and are often refractory to conventional anti-inflammatory treatment. In case of early-onset bowel inflammation and other intestinal or extraintestinal manifestations, an IEI should be excluded. A small fraction of monogenic IEI can be amenable to targeted therapies, or even corrected by allogeneic stem cell transplantation. Therefore, early diagnosis is crucial. This paper shows examples of clinical - gastrointestinal as well as extraintestinal - signs and findings which require immunological and possibly genetic workup. Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht. (Thieme. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu