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Genetically Determined Immunodeficiency Diseases: A Perspective 

Genetically Determined Immunodeficiency Diseases: A Perspective
Genetically Determined Immunodeficiency Diseases: A Perspective

C. I. Edvard Smith

, Hans D. Ochs

, and Jennifer M. Puck

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date: 28 June 2022

Primary immunodeficiency diseases are inherited disorders that affect human adaptive and innate immunity. In most cases, affected individuals experience recurrent infections, but they may also suffer from autoimmune diseases and malignancies. This chapter focuses on genetically determined immunodeficiency diseases, including the historic and scientific background, clinical presentations, immunologic characteristics, and the molecular/genetic underpinnings. Where appropriate, diagnostic tools and therapeutic options are outlined -- from prophylactic anti-infective measures to hematopoietic stem cell transplantation and gene therapy.

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