Immunodeficiency and Autoimmunity

  • T. Prescott AtkinsonEmail author


Immunodeficiencies are inherited and acquired defects in immune function that produce increased susceptibility to infection and, often, increased reactivity to self (autoimmunity) and environmental antigens (allergy/hypersensitivity). The primary immunodeficiency diseases are an ever-widening group of genetic disorders with defects in innate or adaptive immunity or both. Increasingly, it is becoming recognized that primary immune deficiency disorders are associated with immune dysregulation and autoimmune phenomena. This chapter will review current knowledge about those primary immune deficiency disorders that are associated with autoimmunity and the diverse underlying mechanisms of pathogenesis involved in the loss of self-tolerance that are responsible for these associations.


Immunologic deficiency syndromes Autoimmune disease Human microbiome Genetic diseases Immune tolerance Regulatory T cells T cells B cells 



Autosomal dominant


Autoimmune regulator


Activated PI3K-delta syndrome


Autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia


Autosomal recessive

CHARGE syndrome

Coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities


Chromodomain-helicase-DNA-binding protein 7




Cytotoxic T-lymphocyte-associated protein 4


DNA cross-link repair 1C (also known as Artemis)




Immune dysregulation polyendocrinopathy enteropathy X-linked


Itchy E3 ubiquitin protein ligase


Idiopathic thrombocytopenic purpura


Juvenile idiopathic arthritis


DNA ligase 4




Lipopolysaccharide (LPS)-responsive vesicle trafficking, beach- and anchor-containing


Melanoma differentiation-associated protein


Nuclear factor of activated T cells


Nonhomologous end-joining factor 1


Primary immune deficiency disorders


Protein kinase, DNA-activated, catalytic polypeptide


Peripheral regulatory T cells


Recombinase activating gene


Severe combined immunodeficiency


Semaphorin 3E


Signal transducer and activator of transcription


T-box transcription factor 1


T cell receptor


Toll-like receptor


Regulatory T cell


Thymic-derived regulatory T cells


X-linked agammaglobulinemia


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Division of Pediatric Allergy, Asthma and ImmunologyUniversity of Alabama at BirminghamBirminghamUSA

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