Hépato-Gastro & Oncologie Digestive


Primary immunodeficiency diseases: In which clinical situations should we think about it and what is the first line investigations? Volume 20, issue 6, Juin 2013


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Centre Hospitalier Lyon-Sud, service de gastroentérologie, 69495 Pierre-Bénite, France ; INSERM U1111, Faculté de Médecine Lyon-Sud Charles Mérieux, Oullins, France

Primary immune disorders (PID) are rare clinical entities, sometimes complex frequently associated with digestive manifestations. Besides infectious manifestations, the proportion of gastrointestinal manifestations in patients with PID raised 50% in some series. A chronic diarrhoea represents the main digestive manifestation of PID and it is recommended to exclude a DIP during the investigations of a chronic diarrhoea. Besides infections, chronic diarrhoea may be often associated with villous atrophia, malabsorption without celiac disease. Diffuse lymphoid nodular hyperplasia, chronic atrophic gastritis or a chronic inflammatory bowel diseases, liver disorders represent various liver and gastrointestinal manifestations in DIP. The diagnosis process should be rigorous and is based on the medical history, physical examination and also on relatively easy immune laboratory parameters by first intention. In front of clinical evidences of DIP, a screening phase of the disease represents the first step (after having excluded a secondary immunosuppression) followed by its characterization leading to its diagnosis and its therapeutic management. In some complex clinical situations, this latter step should be done with the help of the Reference Center of the Primary Immune Disorders.