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Clin Immunol. 2011 Jun;139(3):238-48. doi: 10.1016/j.clim.2011.01.008. Epub 2011 Jan 26.

Diagnosis and treatment of primary immunodeficiency disease in patients with gastrointestinal symptoms.

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Division of Pulmonary, Allergy/Immunology, Cystic Fibrosis and Sleep Apnea, Emory Children's Center, Atlanta, GA, USA.


An estimated 250,000 individuals in the Unites States have been diagnosed with a primary immunodeficiency disease (PIDD). Early diagnosis and treatment of PIDD are critical to minimizing morbidity and improving quality of life. Patients with certain subtypes of PIDD may present with gastrointestinal complaints such as chronic or acute diarrhea, malabsorption, gastrointestinal pain, and inflammatory bowel diseases. Therefore, gastroenterologists are well positioned to help identify patients with PIDD. The hallmarks of PIDD include recurrent or persistent infections, infections due to microorganisms that rarely cause significant disease in immunocompetent people, unusually severe or life-threatening infections, and either low or persistently high white blood cell counts. An assessment for PIDD involves detailed patient and family histories, a physical examination, and diagnostic screening tests. Immunoglobulin replacement therapy is the cornerstone of treatment for most subtypes of PIDD.

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