Common variable immunodeficiency associated with inflammatory bowel disease and type I diabetes

Area of Science:

• Immunology
• Gastroenterology
• Endocrinology

Background:

• Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by impaired antibody production and increased infection susceptibility.
• Patients often present with recurrent infections, but gastrointestinal manifestations are also common.
• This case involves a 39-year-old male with a history of CVID.

Observation:

• The patient presented with severe diarrhea, abdominal pain, fever, appetite loss, and significant weight loss.
• Diagnostic workup revealed low immunoglobulin levels (IgA, IgM, IgG) and an inverted CD4/CD8 T cell ratio.
• Endoscopic and histopathological findings indicated ulcerative lesions and inflammation in the colon and small intestine, with absent plasma cells.

Findings:

• Colonoscopy revealed cobblestone mucosa with ulcerations. Histopathology confirmed aphthous ulcerative lesions and transmural inflammation.
• Immunophenotyping showed an inverted CD4/CD8 T cell ratio and absence of plasma cells.
• A trans-sphincteric perianal fistula was identified via MRI. The patient also had type 1 diabetes mellitus.

Implications:

• This case underscores the diverse clinical presentations of CVID, including significant gastrointestinal involvement.
• The rare co-occurrence of CVID, type 1 diabetes, and a perianal fistula presents diagnostic and management challenges.
• Further research into the interplay between these conditions may improve understanding and treatment strategies.