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Primary immunodeficiency: Overview of management

Author
Francisco A Bonilla, MD, PhD
Section Editor
E Richard Stiehm, MD
Deputy Editors
Anna M Feldweg, MD
Elizabeth TePas, MD, MS

INTRODUCTION

The prevalence of primary immunodeficiency (PID) is estimated at approximately 1 in 2000 live births, and more than 300 distinct disorders have been identified [1,2]. The molecular defects underlying many of these disorders are now understood [1]. Each year, new disorders are identified, and milder variants of known PIDs are recognized in patients surviving into adolescence and adulthood. A number of new medical therapies have provided dramatic improvements in life expectancy and quality of life for immunodeficient individuals, and their care is becoming increasingly complex.

The management of patients with PID begins with early identification and diagnosis. Families with affected children require counseling about the risk of the same disorder occurring in future children. If an affected pregnancy is identified, measures to prevent infection and plan for curative therapies begin at birth. Affected adults may seek information about family planning. Topics related to detection and diagnosis of PID are found separately:

(See "Recognition of immunodeficiency in the newborn period".)

(See "Newborn screening for primary immunodeficiencies".)

(See "Syndromic immunodeficiencies".)

                             

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Literature review current through: Mar 2017. | This topic last updated: Apr 14, 2017.
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