DOI: 10.12890/2026_007371

Celiac Disease as a Gastrointestinal Manifestation in a Patient with CARMIL2 Deficiency: A Case Report and Review of Current Literature

Authors

  • Ahmed T. AlHawamedeh Department of Medicine, Division of Gastroenterology, College of Medicine, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia
  • Nasser F. AlSunbul Department of Medicine, Division of Gastroenterology, College of Medicine, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia 0009-0004-6904-4594
  • Muhammad F. Mubarak 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

NasserAlSunbul@Outlook.com

Keywords

Celiac disease, CARMIL2 deficiency, Marsh score, autosomal recessive immunodeficiency

Abstract

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).

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References

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Published

2026-09-04

Issue

Vol. 13 No. 10 (2026)

Categories

How to Cite

1.
AlHawamedeh A, AlSunbul NF, Mubarak M. Celiac Disease as a Gastrointestinal Manifestation in a Patient with CARMIL2 Deficiency: A Case Report and Review of Current Literature. EJCRIM [Internet]. 2026 Sep. 4 [cited 2026 Nov. 3];13(10). Available from: https://ejcrim.com/index.php/ejcrim/article/view/7371