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Medical management of immunodeficiency

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

INTRODUCTION

The predominant clinical consequence of immunodeficiency is an increased frequency and severity of infection. As understanding of the molecular defects underlying many of these disorders continues to expand, a number of new medical therapies have provided dramatic improvements in life expectancy and in the quality of life for immunodeficient and immunosuppressed subjects.

The use of medical therapies, including immune globulin, vaccination, and prophylactic antibiotics in the treatment of immunodeficiency will be reviewed here. Practical measures for avoiding infection are also discussed. The suggestions in this topic review are consistent with practice parameters for the management of primary immunodeficiency [1].

The role of hematopoietic cell transplantation (HCT) and the possible role of gene therapy in the treatment of primary immunodeficiencies, and additional information regarding therapies for specific disorders are discussed separately. (See "Hematopoietic cell transplantation for primary immunodeficiency" and "Gene therapy for primary immunodeficiency" and "Severe combined immunodeficiency (SCID): An overview" and "Primary humoral immunodeficiencies: An overview" and "Primary disorders of phagocytic function: An overview" and "Inherited disorders of the complement system".)

EARLY DETECTION

Early detection and diagnosis of primary immunodeficiency improves clinical outcomes. There are various measures that can help identify immunodeficiencies promptly.

Detecting severe primary immunodeficiencies in neonates — Genetic testing is available for a growing number of primary immunodeficiencies and neonatal screening for various forms of severe combined immunodeficiency (SCID) is available in some states in the United States and some other countries [2-4]. Identification of neonates with SCID is particularly critical and newborns known to have, or who are at high risk for SCID, should be isolated and carefully managed from birth. Neonatal screening, initial testing, isolation, and perinatal management for SCID are reviewed in more detail elsewhere. (See "Severe combined immunodeficiency (SCID): An overview", section on 'Protective measures' and "Severe combined immunodeficiency (SCID): An overview", section on 'Newborn screening'.)

                      

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Literature review current through: Nov 2016. | This topic last updated: Fri Nov 13 00:00:00 GMT+00:00 2015.
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References
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