{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T08:55:01Z","timestamp":1780476901073,"version":"3.54.1"},"reference-count":21,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Therapeutic Advances in Chronic Disease"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:p>Interleukin-2 receptor alpha ( IL2RA) defect (OMIM- # 606367) is an immune disease where affected patients are vulnerable to developing recurrent microbial infections in addition to lymphadenopathy and dermatological manifestations. This condition is known to be caused by pathogenic variants in the IL2RA gene, which are inherited in an autosomal recessive fashion. In this case report, we present a patient with IL2RA defect from Saudi Arabia who presented with chronic diarrhea, poor weight gain, mild villous atrophy, malnutrition, hepatomegaly, nonspecific inflammation, and an eczematous skin rash. His genetic analysis revealed a novel, homozygous, and likely pathogenic variant, that is, c.504 C&gt;A (Cys168Ter), located in the exon 4of the IL2RA gene, which was inherited from his parents in an autosomal recessive mode of inheritance. This variant produces a 272-amino-acid shorter IL2RA protein chain, which most likely becomes degraded in the cytosol. Thus, we assume that the c.504 C&gt;A is a null allele that abolishes the synthesis of IL2RA, malforms the IL-2 receptor complex, and eventually causes immunodeficiency manifestations. To our knowledge, this is the first time a person with IL2RA defect has shown signs of granulomatous hepatitis on a liver biopsy.<\/jats:p>","DOI":"10.1177\/20406223221116798","type":"journal-article","created":{"date-parts":[[2022,8,9]],"date-time":"2022-08-09T09:02:35Z","timestamp":1660035755000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Granulomatous hepatitis in a Saudi child with\n                    <i>IL2RA<\/i>\n                    defect: a case report and literature review"],"prefix":"10.1177","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0540-8430","authenticated-orcid":false,"given":"Meshari A.","family":"Alaifan","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"Pediatric Gastroenterology Unit, Department of Pediatrics, King Abdulaziz University Hospital, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0665-901X","authenticated-orcid":false,"given":"Ohood","family":"Abusharifah","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Maternity and Children Hospital Abha, Abha, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rana Yagoub","family":"Bokhary","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Babajan","family":"Banaganapalli","sequence":"additional","affiliation":[{"name":"Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noor Ahmad","family":"Shaik","sequence":"additional","affiliation":[{"name":"Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8535-3838","authenticated-orcid":false,"given":"Naglaa M.","family":"Kamal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3744-9907","authenticated-orcid":false,"given":"Omar I.","family":"Saadah","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, P.O. Box 80205, Jeddah 21589, Saudi Arabia"},{"name":"Pediatric Gastroenterology Unit, Department of Pediatrics, King Abdulaziz University Hospital, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2022,8,9]]},"reference":[{"key":"bibr1-20406223221116798","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2013.01.004"},{"key":"bibr2-20406223221116798","doi-asserted-by":"publisher","DOI":"10.1016\/j.sjbs.2019.10.001"},{"key":"bibr3-20406223221116798","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2021.724826"},{"key":"bibr4-20406223221116798","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.652011"},{"key":"bibr5-20406223221116798","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00146"},{"key":"bibr6-20406223221116798","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btl023"},{"key":"bibr7-20406223221116798","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2021.694668"},{"key":"bibr8-20406223221116798","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1221"},{"key":"bibr9-20406223221116798","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.7.3168"},{"key":"bibr10-20406223221116798","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.iy.11.040193.001333"},{"key":"bibr11-20406223221116798","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.0900691"},{"key":"bibr12-20406223221116798","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-02-004747"},{"key":"bibr13-20406223221116798","doi-asserted-by":"publisher","DOI":"10.1038\/ng2102"},{"key":"bibr14-20406223221116798","doi-asserted-by":"publisher","DOI":"10.1126\/science.1109745"},{"key":"bibr15-20406223221116798","doi-asserted-by":"publisher","DOI":"10.1080\/00365510802707163"},{"key":"bibr16-20406223221116798","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M300482-JLR200"},{"key":"bibr17-20406223221116798","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.02905"},{"key":"bibr18-20406223221116798","doi-asserted-by":"publisher","DOI":"10.1080\/14656566.2017.1369956"},{"key":"bibr19-20406223221116798","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-018-0326-5"},{"key":"bibr20-20406223221116798","doi-asserted-by":"publisher","DOI":"10.1111\/cei.12214"},{"key":"bibr21-20406223221116798","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2006.10.007"}],"container-title":["Therapeutic Advances in Chronic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/20406223221116798","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/20406223221116798","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/20406223221116798","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T23:19:12Z","timestamp":1777591152000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/20406223221116798"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":21,"alternative-id":["10.1177\/20406223221116798"],"URL":"https:\/\/doi.org\/10.1177\/20406223221116798","relation":{},"ISSN":["2040-6223","2040-6231"],"issn-type":[{"value":"2040-6223","type":"print"},{"value":"2040-6231","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1]]},"article-number":"20406223221116798"}}