Crohn’s Disease-Like Features in a Patient With IgE and Selective IgG1 and IgG3 Deficiency

Abstract

We report a 19-year-old male with congenital, combined deficiency of immunoglobulin (Ig) E and 2/4 subclasses of IgG (G1, G3) and chronic diarrhea. He presented at six years of age with chronic recurrent diarrhea responsive to immunoglobulin treatment. Initially, it was considered of infectious origin. However, at the age of 14 years, ileocolonoscopy and magnetic resonance enterography (MRE) were performed, and they showed a mild, limited, non-specific, terminal ileitis with increased eosinophil count on histology. A diagnosis of possible eosinophilic gastroenteritis was made, and budesonide was administered with temporary relief. However, at the age of 19 years, repeat ileocolonoscopy showed multiple ulcers in the terminal ileum and aphthous ulcers in the cecum, and repeat MRE demonstrated extensive ileal involvement. Esophagogastroduodenoscopy demonstrated the involvement of the upper GI tract with aphthous ulcers. Subsequently, gastric, ileal, and colonic biopsies revealed Ziehl-Neelsen-negative, noncaseating granulomas. We hereby report the first case of IgE and selective IgG1 and IgG3 deficiency complicated with Crohn's disease-like extensive GI involvement.