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

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).

Learning points: Monogenic inflammatory bowel diseases have been extensively documented in association with diverse primary immunodeficiencies, but celiac disease has rarely been described in this context.This is a novel case of a young adult with a confirmed CARMIL2 deficiency diagnosis who developed true celiac disease established by serology, duodenal biopsy and a response to a gluten-free diet.