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DiGeorge Syndrome: A Chromosome 22q11.2 Deletion Syndrome 

DiGeorge Syndrome: A Chromosome 22q11.2 Deletion Syndrome
DiGeorge Syndrome: A Chromosome 22q11.2 Deletion Syndrome

Deborah A. Driscoll

and Kathleen E. Sullivan

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date: 19 October 2019

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 DiGeorge Syndrome: A Chromosome 22q11. 2 Deletion Syndrome, 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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