JOURNAL ARTICLE
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12. Primary immunodeficiency diseases.

Although primary immunodeficiency disorders are relatively rare, intensive investigation of these disorders has yielded a great wealth of understanding of basic immunologic mechanisms in host defense, inflammation, and autoimmunity. These advances have led to important developments for the treatment not only of the primary immunodeficiencies but also for patients with secondary immunocompromised states, autoimmune disorders, hypersensitivity, graft rejection, and graft versus host disease. Correction of a form of severe combined immunodeficiency represents the first true success of human gene therapy. This review introduces the major clinical manifestations of primary immunodeficiency disorders, along with descriptions of essential elements of the pathophysiology of those disorders that have been defined at the molecular level. Key concepts in treatment are also presented. It is critical for the practicing primary care provider and allergist to maintain an index of suspicion for immunodeficiency. Early diagnosis offers the best opportunity for reduced morbidity and survival and is critical for accurate genetic counseling.

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