Chapter 156

Immunodeficiency Syndromes

Julie V. Schaffer

Julie V. Schaffer

Division of Pediatric and Adolescent Dermatology, Hackensack University Medical Center, Hackensack, NJ, USA

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Melanie Makhija

Melanie Makhija

Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA

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Amy S. Paller

Amy S. Paller

Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA

Department of Dermatology, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA

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First published: 20 November 2019
Citations: 1

Summary

Primary immunodeficiencies represent a heterogeneous group of disorders characterized by increased susceptibility to infection and often additional features such as autoimmunity, allergy and malignancy. Mucocutaneous manifestations are often a presenting sign, allowing one to suspect the diagnosis and initiate intervention. Improved understanding of the underlying genetic and molecular basis of many of these forms of immunodeficiency has led to reversal through stem cell transplantation or, in some cases, more targeted therapy.

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