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Thursday, November 5, 2015

Practice parameter for the diagnosis and management of primary immunodeficiency

Primary Immunodeficiency Diseases (PIDD) are inherited disorders of immune function that result in an increased rate and severity of infection, immune dysregulation, autoimmune disease, abnormal inflammatory responses, and malignancy. More than 300 disorders have been identified to date; they occur in as many as 1:2000 live births. Approximately half of those diagnosed with a PIDD have an antibody deficiency.

The principal clinical manifestation of immunodeficiency is an increased susceptibility to infection. In its evaluation, it is critical to the extent possible to document the foci of infections, the organisms, and the response to treatment. This distinguishes specific infectious agents and may help determine other conditions such as non-infectious inflammation. It is important to note that allergy to environmental allergens, food, or both can be an important element of and diagnostic clue for many PIDDs.

Under the aegis of the American Academy of Allergy, Asthma & Immunology (AAAAI); the American College of Allergy, Asthma & Immunology (ACAAI); and the Joint Council of Allergy, Asthma & Immunology (JCAAI) Bonilla et al present an updated practice parameter (J Allergy Clin Immunol 2015; 136: 1186-1205) designed to serve as a practical guide for the clinical recognition and diagnosis of immunodeficiency, along with the general principles that guide management of such disorders.

The practice parameter organizes current knowledge and best practices. Its preparation included a review of the medical literature followed by ratings of published clinical studies or reports according to category of evidence. The ratings were then used to establish the strength of a given clinical recommendation. The practice parameter does not focus on detailed pathophysiology of various disorders. It consists of 239 summary statements, each containing a specific recommendation for clinical diagnosis or management. An executive summary and several tables and diagnostic algorithms accompany the text.

While developed with the consultant allergist/immunologist in mind, the practice parameter may serve as a useful reference for physicians in all specialties and at all levels of training. It may also be useful to administrators in the managed care or insurance fields. The authors hope to foster wider recognition of primary immunodeficiency, increase uniformity and efficiency in evaluation, and enhance application of specific diagnoses.

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