{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T10:49:37Z","timestamp":1791370177785,"version":"4.3.1"},"reference-count":12,"publisher":"SMC Media","issue":"10","license":[{"start":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T00:00:00Z","timestamp":1788480000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>CARMIL2 deficiency is a rarely occurring, autosomal recessive immunodeficiency disease, manifested as an impairment in CD28-mediated T-cell costimulation, actin cytoskeleton dysregulation and a broad immunological disturbance across T, B and NK cell lineages. It has been strongly associated with an early onset of inflammatory bowel disease-like enteropathies, recurrent infections, dermatitis and eczema. While gastrointestinal involvement is well documented, celiac disease has not yet been reported in this context. We present a case of a 23-year-old Saudi male with genetically confirmed CARMIL2 deficiency who developed true celiac disease demonstrated through a comprehensive gastrointestinal evaluation, with an extensive diagnostic workup that included upper endoscopy with duodenal biopsies, histopathological examination and celiac serologies (tTG IgA, tTG IgG and DGP IgA\/IgG).<\/jats:p>","DOI":"10.12890\/2026_007371","type":"journal-article","created":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T08:12:36Z","timestamp":1788509556000},"source":"Crossref","is-referenced-by-count":0,"title":["Celiac Disease as a Gastrointestinal Manifestation in a Patient with CARMIL2 Deficiency: A Case Report and Review of Current Literature"],"prefix":"10.12890","volume":"13","author":[{"given":"Ahmed","family":"AlHawamedeh","sequence":"first","affiliation":[{"name":"Department of Medicine, Division of Gastroenterology, College of Medicine, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nasser F.","family":"AlSunbul","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Gastroenterology, College of Medicine, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Mubarak","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Gastroenterology, College of Medicine, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia; Department of Medicine, Division of Gastroenterology, College of Medicine, King Saud University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10397","published-online":{"date-parts":[[2026,9,4]]},"reference":[{"key":"10.12890\/2026_007371_ref1","doi-asserted-by":"crossref","unstructured":"Magg T, Shcherbina A, Arslan D, Desai MM, Wall S, Mitsialis V, et al. CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease. Inflamm Bowel Dis. 2019;25(11):1788-1795. doi: 10.1093\/ibd\/izz103.","DOI":"10.1093\/ibd\/izz103"},{"key":"10.12890\/2026_007371_ref2","doi-asserted-by":"crossref","unstructured":"Bosa L, Batura V, Colavito D, Fiedler K, Gaio P, Guo C, et al. Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease. Sci Rep. 2021;11(1):5945. doi: 10.1038\/s41598-021-85399-9.","DOI":"10.1038\/s41598-021-85399-9"},{"key":"10.12890\/2026_007371_ref3","doi-asserted-by":"crossref","unstructured":"Yonkof JR, Gupta A, Rueda CM, Mangray S, Prince BT, Rangarajan HG, et al. A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors. Front Immunol. 2020;11:884. doi: 10.3389\/fimmu.2020.00884.","DOI":"10.3389\/fimmu.2020.00884"},{"key":"10.12890\/2026_007371_ref4","doi-asserted-by":"crossref","unstructured":"Kolukisa B, Baser D, Akcam B, Danielson J, Bilgic Eltan S, Haliloglu Y, et al. Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency. Allergy. 2022;77(3):1004-1019. doi: 10.1111\/all.15010.","DOI":"10.1111\/all.15010"},{"key":"10.12890\/2026_007371_ref5","doi-asserted-by":"crossref","unstructured":"Altay D, Kisaarslan AP, Arslan D. Gastrointestinal endoscopic findings of autoimmune and autoinflammatory diseases in pediatric rheumatology patients. North Clin Istanb. 2023;10(2):228-236. doi: 10.14744\/nci.2021.62713.","DOI":"10.14744\/nci.2021.62713"},{"key":"10.12890\/2026_007371_ref6","doi-asserted-by":"crossref","unstructured":"Atschekzei F, Jacobs R, Wetzke M, Sogkas G, Schr\u00f6der C, Ahrenstorf G, et al. A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency. J Clin Immunol. 2019;39(3):274-276. doi: 10.1007\/s10875-019-00628-1.","DOI":"10.1007\/s10875-019-00628-1"},{"key":"10.12890\/2026_007371_ref7","doi-asserted-by":"crossref","unstructured":"Kurolap A, Eshach Adiv O, Konnikova L, Werner L, Gonzaga-Jauregui C, Steinberg M, et al. A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant. J Clin Immunol. 2019;39(4):430-439. doi: 10.1007\/s10875-019-00631-6.","DOI":"10.1007\/s10875-019-00631-6"},{"key":"10.12890\/2026_007371_ref8","doi-asserted-by":"crossref","unstructured":"Marangi G, Garcovich S, Sante GD, Orteschi D, Frangella S, Scaldaferri F, et al. Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers. Acta Derm Venereol. 2020;100(1):adv00038. doi: 10.2340\/00015555-3370.","DOI":"10.2340\/00015555-3370"},{"key":"10.12890\/2026_007371_ref9","unstructured":"Bosa, L. Precision medicine in pediatric inflammatory bowel disease: an omics and non-omics data-driven patient-centered translational research approach. 2023. Available from: https:\/\/hdl.handle.net\/11577\/3501919"},{"key":"10.12890\/2026_007371_ref10","doi-asserted-by":"crossref","unstructured":"L\u00e9vy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, et al. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. J Exp Med. 2023;220(2):e20220275. doi: 10.1084\/jem.20220275.","DOI":"10.1084\/jem.20220275"},{"key":"10.12890\/2026_007371_ref11","doi-asserted-by":"crossref","unstructured":"Chaudhry IUH, Alshaer A, Al Jassas B, Alkhunizi A, Alsaiary M, AlMubayaedh TA, et al. Bronchopleural fistula in a 5- years old child with novel CARMIL 2 mutation: A rare disease and a rare case. Ann Med Surg (Lond). 2021;66:102443. doi: 10.1016\/j.amsu.2021.102443.","DOI":"10.1016\/j.amsu.2021.102443"},{"key":"10.12890\/2026_007371_ref12","doi-asserted-by":"crossref","unstructured":"Zamani R, Zoghi S, Shahkarami S, Seyedpour S, Jimenez Heredia R, Boztug K, et al. Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report. Endocr Metab Immune Disord Drug Targets. 2024;24(5):596-605. doi: 10.2174\/0118715303263327230922043929.","DOI":"10.2174\/0118715303263327230922043929"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/ejcrim.com\/index.php\/EJCRIM\/article\/download\/7371\/5964","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/ejcrim.com\/index.php\/EJCRIM\/article\/download\/7371\/5965","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/ejcrim.com\/index.php\/EJCRIM\/article\/download\/7371\/5965","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T09:51:56Z","timestamp":1791366716000},"score":1,"resource":{"primary":{"URL":"https:\/\/ejcrim.com\/index.php\/EJCRIM\/article\/view\/7371"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,4]]},"references-count":12,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.12890\/2026_007371","relation":{"has-manifestation":[{"id-type":"other","id":"1-174-7371-g5964","asserted-by":"subject"},{"id-type":"other","id":"1-174-7371-g5965","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-174","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"value":"2284-2594","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,4]]}}}