{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T02:56:37Z","timestamp":1790218597738,"version":"4.1.0"},"reference-count":96,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T00:00:00Z","timestamp":1649808000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["R01 CA247790"],"award-info":[{"award-number":["R01 CA247790"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["R21 CA265400"],"award-info":[{"award-number":["R21 CA265400"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Gastro and Hepatol"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Aim<\/jats:title>\n                    <jats:p>Humans with inborn errors of immunity (IEI), or primary immunodeficiencies, may be associated with a potential risk factor for early\u2010onset gastrointestinal (GI) cancer.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We systematically reviewed all cases with clinical diagnoses of both an IEI and a GI cancer in three databases (MEDLINE, SCOPUS, and EMBASE). In total, 76 publications satisfying our inclusion criteria were identified, and data for 149 cases were analyzed. We also searched our institutional cancer registry for such cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified 149 patients with both an IEI and a GI cancer, 95 presented gastric cancer, 13 small bowel cancer, 35 colorectal cancer, and 6 had an unspecified cancer or cancer at another site. Gastric and colon adenocarcinomas were the most common. For both gastric and colorectal cancers, age at onset was significantly earlier in patients with IEIs than in the general population, based on the SEER database. Common variable immunodeficiency (CVID) was the most common IEI associated with gastrointestinal cancer. About 12% of patients had molecular genetic diagnoses, the three most frequently implicated genes being\n                      <jats:italic>ATM<\/jats:italic>\n                      ,\n                      <jats:italic>CARMIL2<\/jats:italic>\n                      , and\n                      <jats:italic>CTLA4<\/jats:italic>\n                      . Impaired humoral immunity and Epstein\u2013Barr virus (EBV) infection were frequently reported as factors potentially underlying early\u2010onset GI cancers in patients with IEIs. We identified one patient with CVID and early\u2010onset gastric adenocarcinoma, recurrent diarrhea, and gastrointestinal CMV infection from a retrospective survey.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Patients with IEIs should be considered at risk of early\u2010onset GI cancers and should therefore undergo cancer screening at an earlier age.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jgh.15848","type":"journal-article","created":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T13:03:44Z","timestamp":1649163824000},"page":"973-982","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Immunogenetics of gastrointestinal cancers: A systematic review and retrospective survey of inborn errors of immunity in humans"],"prefix":"10.1111","volume":"37","author":[{"given":"Beishi","family":"Zheng","sequence":"first","affiliation":[{"name":"Division of Digestive and Liver Disease, Department of Medicine Columbia University Irving Medical Center  New York New York USA"},{"name":"Department of Internal Medicine Woodhull Medical and Mental Health Center  Brooklyn New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael G","family":"Artin","sequence":"additional","affiliation":[{"name":"Division of Digestive and Liver Disease, Department of Medicine Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard","family":"Chung","sequence":"additional","affiliation":[{"name":"Division of Digestive and Liver Disease, Department of Medicine Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Chen","sequence":"additional","affiliation":[{"name":"Division of Digestive and Liver Disease, Department of Medicine Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siming","family":"Sun","sequence":"additional","affiliation":[{"name":"Division of Digestive and Liver Disease, Department of Medicine Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin L","family":"May","sequence":"additional","affiliation":[{"name":"Division of Digestive and Liver Disease, Department of Medicine Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chin","family":"Hur","sequence":"additional","affiliation":[{"name":"Division of Digestive and Liver Disease, Department of Medicine Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter H R","family":"Green","sequence":"additional","affiliation":[{"name":"Division of Digestive and Liver Disease, Department of Medicine Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy C","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Digestive and Liver Disease, Department of Medicine Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiheum","family":"Park","sequence":"additional","affiliation":[{"name":"Division of Digestive and Liver Disease, Department of Medicine Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9983-2373","authenticated-orcid":false,"given":"Xiao\u2010Fei","family":"Kong","sequence":"additional","affiliation":[{"name":"Division of Digestive and Liver Disease, Department of Medicine Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5022.779"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.13.1736"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365\u20102133.2002.04976.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20201979"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2020.10.036"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875\u2010019\u201000737\u2010x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.14309\/ajg.0000000000001122"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.4251\/wjgo.v2.i2.59"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.surg.2019.04.036"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.giec.2020.02.015"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21114012"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875\u2010014\u20100102\u20108"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s41182\u2010019\u20100165\u20106"},{"key":"e_1_2_6_15_1","first-page":"472","article-title":"Jejunal malignant lymphoma in a patient with adult\u2010onset hypo\u2010gamma\u2010globulinemia and nodular lymphoid hyperplasia of the small bowel","author":"Aguilar FP","year":"1987","journal-title":"Am. J. Gastroenterol."},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00915550"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19870115)59:2<271::AID-CNCR2820590216>3.0.CO;2-H"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.1987.tb02764.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176\u2010198805000\u201000025"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00917124"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01789177"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004836\u2010199110000\u201000025"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02050679"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004836\u2010199209000\u201000010"},{"key":"e_1_2_6_25_1","first-page":"485","article-title":"Diffuse pulmonary infiltrates in hypogammaglobulinemia","author":"Matz J","year":"1992","journal-title":"Ann. Allergy"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-199305000-00016"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097\u20100142(19930901)72:5<1528::AID\u2010CNCR2820720506>3.0.CO;2\u2010V"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.32.152"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140\u20106736(93)90883\u2010I"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.163.5.7976886"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00198249"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046\u20108177(96)90232\u20104"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165\u20104608(98)00175\u20107"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050578"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004836-199906000-00023"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.45.1.77"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1097\/00042737\u2010200012090\u201000013"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.2002.02004.x"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2004.02.022"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.MPG.0000153003.59448.36"},{"key":"e_1_2_6_41_1","first-page":"ECR61","article-title":"Common variable immunodeficiency patient with large granular lymphocytosis developing extranodal diffuse large B\u2010cell lymphoma: a case report","author":"Delia M","year":"2006","journal-title":"Haematologica"},{"key":"e_1_2_6_42_1","first-page":"136","article-title":"Extranodal marginal zone (MALT) lymphoma in common variable immunodeficiency","volume":"64","author":"Desar IME","year":"2006","journal-title":"Neth. J. Med."},{"key":"e_1_2_6_43_1","first-page":"359","article-title":"Small bowel obstruction by a carcinoid tumor in a patient with familial Mediterranean fever","author":"Gabizon I","year":"2006","journal-title":"Isr. Med. Assoc. J."},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e3180cab60c"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10620\u2010006\u20109299\u20106"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1097\/CAD.0b013e32803a46ea"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cgh.2007.08.019"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.5858\/2008\u2010132\u2010847\u2010PDGNCA"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1080\/13693780701616023"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clon.2008.01.007"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1186\/1477\u20107819\u20107\u201029"},{"key":"e_1_2_6_52_1","first-page":"e201","article-title":"Gastric adenocarcinoma occurring in a young patient with common variable immunodeficiency syndrome","author":"Yap YL","year":"2009","journal-title":"Singapore Med. J."},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinre.2011.06.001"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102249.2011.04384.x"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2011.06.005"},{"key":"e_1_2_6_56_1","first-page":"29","article-title":"Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report","author":"Turkbeyler IH","year":"2011","journal-title":"Tokai J. Exp. Clin. Med."},{"key":"e_1_2_6_57_1","doi-asserted-by":"publisher","DOI":"10.2174\/187152912801823084"},{"key":"e_1_2_6_58_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e318279b3f7"},{"key":"e_1_2_6_59_1","doi-asserted-by":"publisher","DOI":"10.1177\/1066896914532540"},{"key":"e_1_2_6_60_1","doi-asserted-by":"publisher","DOI":"10.1111\/jgh.12587"},{"key":"e_1_2_6_61_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-013-9971-5"},{"key":"e_1_2_6_62_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2015.06.013"},{"key":"e_1_2_6_63_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12029-015-9776-2"},{"key":"e_1_2_6_64_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-015-0221-x"},{"key":"e_1_2_6_65_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0682-5"},{"key":"e_1_2_6_66_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14209"},{"key":"e_1_2_6_67_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.02012"},{"key":"e_1_2_6_68_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.02546"},{"key":"e_1_2_6_69_1","doi-asserted-by":"publisher","DOI":"10.2174\/1389201019666181010170630"},{"key":"e_1_2_6_70_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-019-0880-1"},{"key":"e_1_2_6_71_1","doi-asserted-by":"crossref","first-page":"e2018146","DOI":"10.1590\/1984-0462\/2020\/38\/2018146","article-title":"Neuroendocrine tumor in a child with common variable immunodeficiency","volume":"38","author":"PdSL A","year":"2020","journal-title":"Revista paulista de pediatria: orgao oficial da Sociedade de Pediatria de Sao Paulo"},{"key":"e_1_2_6_72_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002\u20109343(61)90141\u20103"},{"key":"e_1_2_6_73_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.27.3.362"},{"key":"e_1_2_6_74_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(66)90189-6"},{"key":"e_1_2_6_75_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003\u20104819\u201066\u20103\u2010507"},{"key":"e_1_2_6_76_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.42.226.608"},{"key":"e_1_2_6_77_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1969.03160360030006"},{"key":"e_1_2_6_78_1","doi-asserted-by":"publisher","DOI":"10.1111\/imj.1970.19.2.165"},{"key":"e_1_2_6_79_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.2910120204"},{"key":"e_1_2_6_80_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197404)33:4<1134::AID-CNCR2820330437>3.0.CO;2-7"},{"key":"e_1_2_6_81_1","doi-asserted-by":"publisher","DOI":"10.1001\/archsurg.1975.01360080084016"},{"key":"e_1_2_6_82_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(76)90173-X"},{"key":"e_1_2_6_83_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197610)38:4<1781::AID-CNCR2820380454>3.0.CO;2-M"},{"key":"e_1_2_6_84_1","doi-asserted-by":"publisher","DOI":"10.1620\/tjem.121.127"},{"key":"e_1_2_6_85_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.138.11.1682"},{"key":"e_1_2_6_86_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.160"},{"key":"e_1_2_6_87_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01315216"},{"key":"e_1_2_6_88_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19820201)49:3<445::AID-CNCR2820490309>3.0.CO;2-1"},{"key":"e_1_2_6_89_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02553947"},{"key":"e_1_2_6_90_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(85)91037\u20102"},{"key":"e_1_2_6_91_1","doi-asserted-by":"publisher","DOI":"10.1080\/1744666X.2019.1658523"},{"key":"e_1_2_6_92_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2015.07.021"},{"key":"e_1_2_6_93_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells10030710"},{"key":"e_1_2_6_94_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13223\u2010020\u201000451\u2010z"},{"key":"e_1_2_6_95_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2017.01.009"},{"key":"e_1_2_6_96_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI61014"},{"key":"e_1_2_6_97_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI90727"}],"container-title":["Journal of Gastroenterology and Hepatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jgh.15848","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jgh.15848","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jgh.15848","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T17:02:04Z","timestamp":1692810124000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jgh.15848"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,13]]},"references-count":96,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1111\/jgh.15848"],"URL":"https:\/\/doi.org\/10.1111\/jgh.15848","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.01.25.22269823","asserted-by":"object"}]},"ISSN":["0815-9319","1440-1746"],"issn-type":[{"value":"0815-9319","type":"print"},{"value":"1440-1746","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,13]]},"assertion":[{"value":"2022-02-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}