Gastrointestinal Disorders Associated with Primary Immunodeficiency Diseases

Area of Science:

• Immunology
• Gastroenterology
• Genetics

Background:

• Over 354 primary immunodeficiency diseases (PIDDs) are identified, with many having gastrointestinal (GI) manifestations.
• Approximately one-third of PIDDs present with GI symptoms, often as the initial sign of immune dysfunction.
• Recognizing GI patterns is vital for identifying PIDDs and enabling timely, multidisciplinary management.

Purpose of the Study:

• To review the diverse GI presentations and complications associated with PIDDs.
• To aid healthcare providers in identifying potential PIDDs in patients with unexplained GI symptoms.
• To highlight the importance of a holistic approach to immunity in patients with significant GI disease.

Main Methods:

• Literature review using the International Union of Immunological Sciences (IUIS) registry and PubMed.
• Categorization of GI manifestations of PIDDs into inflammatory, diarrhea, nodular lymphoid hyperplasia, liver/biliary tract, structural, and oncologic disease.
• Synthesis of current understanding of PIDD-related GI pathology.

Main Results:

• PIDDs can manifest across a spectrum of GI conditions, including inflammation, chronic diarrhea, and structural abnormalities.
• GI symptoms frequently serve as the initial indicator of a PIDD, necessitating a thorough immune evaluation.
• Accurate molecular diagnosis and a multidisciplinary approach are essential for effective PIDD management.

Conclusions:

• A comprehensive understanding of GI manifestations of PIDDs is critical for early diagnosis.
• Clinicians should consider PIDDs in patients with persistent or unusual GI problems.
• Integrated care involving immunologists and gastroenterologists improves outcomes for patients with PIDDs.