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...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Frederik Staels, Tom Collignon, Albrecht Betrains, Margaux Gerbaux, Mathijs Willemsen, Stephanie Humblet-Baron, Adrian Liston, Steven Vanderschueren, Rik Schrijvers
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	primary immunodeficiency genetics adult-onset monogenic mutation inborn errors of immunity Immunologic diseases. Allergy RC581-607
Acceso en línea:	https://doaj.org/article/983d89393b9c4f94857c42b23607fd67
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:983d89393b9c4f94857c42b23607fd67
record_format	dspace
spelling	oai:doaj.org-article:983d89393b9c4f94857c42b23607fd672021-11-17T04:48:12ZMonogenic Adult-Onset Inborn Errors of Immunity1664-322410.3389/fimmu.2021.753978https://doaj.org/article/983d89393b9c4f94857c42b23607fd672021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fimmu.2021.753978/fullhttps://doaj.org/toc/1664-3224Inborn 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.Frederik StaelsFrederik StaelsTom CollignonAlbrecht BetrainsAlbrecht BetrainsMargaux GerbauxMargaux GerbauxMathijs WillemsenMathijs WillemsenStephanie Humblet-BaronAdrian ListonAdrian ListonSteven VanderschuerenSteven VanderschuerenRik SchrijversRik SchrijversFrontiers Media S.A.articleprimary immunodeficiencygeneticsadult-onsetmonogenicmutationinborn errors of immunityImmunologic diseases. AllergyRC581-607ENFrontiers in Immunology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	primary immunodeficiency genetics adult-onset monogenic mutation inborn errors of immunity Immunologic diseases. Allergy RC581-607
spellingShingle	primary immunodeficiency genetics adult-onset monogenic mutation inborn errors of immunity Immunologic diseases. Allergy RC581-607 Frederik Staels Frederik Staels Tom Collignon Albrecht Betrains Albrecht Betrains Margaux Gerbaux Margaux Gerbaux Mathijs Willemsen Mathijs Willemsen Stephanie Humblet-Baron Adrian Liston Adrian Liston Steven Vanderschueren Steven Vanderschueren Rik Schrijvers Rik Schrijvers Monogenic Adult-Onset Inborn Errors of Immunity
description	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.
format	article
author	Frederik Staels Frederik Staels Tom Collignon Albrecht Betrains Albrecht Betrains Margaux Gerbaux Margaux Gerbaux Mathijs Willemsen Mathijs Willemsen Stephanie Humblet-Baron Adrian Liston Adrian Liston Steven Vanderschueren Steven Vanderschueren Rik Schrijvers Rik Schrijvers
author_facet	Frederik Staels Frederik Staels Tom Collignon Albrecht Betrains Albrecht Betrains Margaux Gerbaux Margaux Gerbaux Mathijs Willemsen Mathijs Willemsen Stephanie Humblet-Baron Adrian Liston Adrian Liston Steven Vanderschueren Steven Vanderschueren Rik Schrijvers Rik Schrijvers
author_sort	Frederik Staels
title	Monogenic Adult-Onset Inborn Errors of Immunity
title_short	Monogenic Adult-Onset Inborn Errors of Immunity
title_full	Monogenic Adult-Onset Inborn Errors of Immunity
title_fullStr	Monogenic Adult-Onset Inborn Errors of Immunity
title_full_unstemmed	Monogenic Adult-Onset Inborn Errors of Immunity
title_sort	monogenic adult-onset inborn errors of immunity
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/983d89393b9c4f94857c42b23607fd67
work_keys_str_mv	AT frederikstaels monogenicadultonsetinbornerrorsofimmunity AT frederikstaels monogenicadultonsetinbornerrorsofimmunity AT tomcollignon monogenicadultonsetinbornerrorsofimmunity AT albrechtbetrains monogenicadultonsetinbornerrorsofimmunity AT albrechtbetrains monogenicadultonsetinbornerrorsofimmunity AT margauxgerbaux monogenicadultonsetinbornerrorsofimmunity AT margauxgerbaux monogenicadultonsetinbornerrorsofimmunity AT mathijswillemsen monogenicadultonsetinbornerrorsofimmunity AT mathijswillemsen monogenicadultonsetinbornerrorsofimmunity AT stephaniehumbletbaron monogenicadultonsetinbornerrorsofimmunity AT adrianliston monogenicadultonsetinbornerrorsofimmunity AT adrianliston monogenicadultonsetinbornerrorsofimmunity AT stevenvanderschueren monogenicadultonsetinbornerrorsofimmunity AT stevenvanderschueren monogenicadultonsetinbornerrorsofimmunity AT rikschrijvers monogenicadultonsetinbornerrorsofimmunity AT rikschrijvers monogenicadultonsetinbornerrorsofimmunity
_version_	1718426002938396672

Monogenic Adult-Onset Inborn Errors of Immunity

Ejemplares similares