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10.1097/MEG.0000000000002185 http://scihub22266oqcxt.onion/10.1097/MEG.0000000000002185 34034269!ä!34034269 Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=34034269&cmd=llinks): Failed to open stream: HTTP request failed! 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Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept |pdf=|usr=}}{{34034269}} gab.com Text Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept JO: Eur J Gastroenterol Hepatol http://www.kidney.de/pget.php?&tw=1&pmid=34034269 #FOAvip Gut involvement is frequent in immunologic disorders, especially with inflammatory manifestations but also with cancer. In the last years, advances in functional and genetic testing have improved the diagnostic and therapeutic approach to immune dysregulation syndromes. CTLA-4 deficiency is a rare disease with variable phenotype, ranging from absence of symptoms to severe multisystem manifestations and complications. We describe a rare case of CTLA-4 deficiency in a boy with gastric cancer, very early onset inflammatory bowel disease and polyautoimmunity, the second-ever reported in the literature with the same characteristics. A 17-year-old boy was referred to Bambino Gesu Children's Hospital of Rome, a tertiary care center, for a gastric mass and a long-term history of very early onset inflammatory bowel disease, diabetes mellitus type 1, polyarthritis and psoriasis. Histology of gastric biopsies revealed the presence of neoplastic signet ring cells. Imaging staging showed localized cancer; therefore, the patient underwent subtotal gastrectomy with termino-lateral gastro-jejunal anastomosis. Immunological work up and genetic testing by next-generation sequencing panels for primary immunodeficiencies led to the diagnosis of CTLA-4 deficiency. Good disease control was obtained with the administration of Abatacept. The patient experienced an asymptomatic SARS-CoV-2 infection without any concern. Eighteen months after treatment initiation, the patient is alive and well. Immunologic and genetic testing, such as next-generation sequencing, should always be part of the diagnostic approach to patients with complex immune dysregulation syndrome, severe clinical course, poor response to treatments or cancer. The early recognition of the monogenic disease is the key for disease management and targeted therapy. Twit Text FOAVip Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept ????Eur J Gastroenterol Hepatol http://www.kidney.de/pget.php?&tw=1&pmid=34034269 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=34034269 #FOAvip English Wikipedia <ref>{{Cite pmid|34034269}}</ref> Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept #MMPMID34034269 Angelino G; Cifaldi C; Zangari P; Di Cesare S; Di Matteo G; Chiriaco M; Francalanci P; Faraci S; Rea F; Romeo EF; Amodio D; Ursu GM; Bertocchini A; Accinni A; Crocoli A; Inserra A; Cozza R; Romano C; Licciardello M; Rinelli M; Dall'Oglio L; Cancrini C; De Angelis P; Finocchi A Eur J Gastroenterol Hepatol 2021[Dec]; 33 (1S Suppl 1): e1051-e1056 PMID34034269show ga Gut involvement is frequent in immunologic disorders, especially with inflammatory manifestations but also with cancer. In the last years, advances in functional and genetic testing have improved the diagnostic and therapeutic approach to immune dysregulation syndromes. CTLA-4 deficiency is a rare disease with variable phenotype, ranging from absence of symptoms to severe multisystem manifestations and complications. We describe a rare case of CTLA-4 deficiency in a boy with gastric cancer, very early onset inflammatory bowel disease and polyautoimmunity, the second-ever reported in the literature with the same characteristics. A 17-year-old boy was referred to Bambino Gesu Children's Hospital of Rome, a tertiary care center, for a gastric mass and a long-term history of very early onset inflammatory bowel disease, diabetes mellitus type 1, polyarthritis and psoriasis. Histology of gastric biopsies revealed the presence of neoplastic signet ring cells. Imaging staging showed localized cancer; therefore, the patient underwent subtotal gastrectomy with termino-lateral gastro-jejunal anastomosis. Immunological work up and genetic testing by next-generation sequencing panels for primary immunodeficiencies led to the diagnosis of CTLA-4 deficiency. Good disease control was obtained with the administration of Abatacept. The patient experienced an asymptomatic SARS-CoV-2 infection without any concern. Eighteen months after treatment initiation, the patient is alive and well. Immunologic and genetic testing, such as next-generation sequencing, should always be part of the diagnostic approach to patients with complex immune dysregulation syndrome, severe clinical course, poor response to treatments or cancer. The early recognition of the monogenic disease is the key for disease management and targeted therapy. |*Autoimmune Diseases/diagnosis/drug therapy/genetics[MESH] |*Inflammatory Bowel Diseases/diagnosis/drug therapy/genetics[MESH] |*Stomach Neoplasms/diagnosis/drug therapy/genetics[MESH] |Abatacept/*therapeutic use[MESH] |Adolescent[MESH] |Asymptomatic Infections[MESH] |COVID-19[MESH] |CTLA-4 Antigen/*deficiency/genetics[MESH] |Humans[MESH]Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 1(epmc).pdf DeepDyve Pubget Overpricing