Monogenic Adult-Onset Inborn Errors of Immunity

Inborn errors of immunity (IEI) are a heterogenous group of disorders driven by genetic defects that functionally impact the development and/or function of the innate and/or adaptive immune system. The majority of these disorders are thought to have polygenic background. However, the use of next-gen...

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Bibliographic Details
Published in:Frontiers in immunology 2021-11, Vol.12, p.753978-753978
Main Authors: Staels, Frederik, Collignon, Tom, Betrains, Albrecht, Gerbaux, Margaux, Willemsen, Mathijs, Humblet-Baron, Stephanie, Liston, Adrian, Vanderschueren, Steven, Schrijvers, Rik
Format: Article
Language:English
Subjects:
Adult
adult-onset
Age of Onset
Autoimmune Diseases - genetics
Common Variable Immunodeficiency - genetics
Epigenesis, Genetic
Female
Gene-Environment Interaction
Genetic Association Studies
Genetic Predisposition to Disease
genetics
Hereditary Autoinflammatory Diseases - genetics
High-Throughput Nucleotide Sequencing
Humans
Immunity, Innate - genetics
Immunologic Deficiency Syndromes - classification
Immunologic Deficiency Syndromes - genetics
Immunology
inborn errors of immunity
Lymphohistiocytosis, Hemophagocytic - genetics
Lymphoproliferative Disorders - genetics
Male
monogenic
Mosaicism
Mutation
primary immunodeficiency
Severe Combined Immunodeficiency - genetics
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Summary:Inborn errors of immunity (IEI) are a heterogenous group of disorders driven by genetic defects that functionally impact the development and/or function of the innate and/or adaptive immune system. The majority of these disorders are thought to have polygenic background. However, the use of next-generation sequencing in patients with IEI has led to an increasing identification of monogenic causes, unravelling the exact pathophysiology of the disease and allowing the development of more targeted treatments. Monogenic IEI are not only seen in a pediatric population but also in adulthood, either due to the lack of awareness preventing childhood diagnosis or due to a delayed onset where (epi)genetic or environmental factors can play a role. In this review, we discuss the mechanisms accounting for adult-onset presentations and provide an overview of monogenic causes associated with adult-onset IEI.
ISSN:1664-3224
1664-3224
DOI:10.3389/fimmu.2021.753978