Gastrointestinal stenosis: an underrecognized complication of CARMIL2 deficiency

Abstract

CARMIL2 deficiency is a rare autosomal recessive combined immunodeficiency classically associated with dermatitis, inflammatory bowel disease (IBD), recurrent infections, and Epstein-Barr virus-related tumors. Gastrointestinal (GI) stenosis remains an underrecognized but potentially life-threatening complication. We report a consanguineous Moroccan family in which all three siblings with CARMIL2 deficiency developed early-onset, severe, and progressive GI stenoses, including pyloric and esophageal involvement. The striking consistency and severity of this phenotype within a single family highlight the clinical importance of early recognition and timely intervention to prevent irreversible GI damage.