The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.
Alleles
COVID-19
/ complications
Diagnosis, Differential
Disease Management
Genetic Association Studies
/ methods
Genetic Predisposition to Disease
Genotype
Humans
Immunity
/ genetics
Inheritance Patterns
Phenotype
Primary Immunodeficiency Diseases
/ diagnosis
Public Health Surveillance
Risk Factors
Inborn errors of immunity
autoinflammatory disorders
immune dysregulation
primary immunodeficiencies
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
received:
10
11
2020
accepted:
20
01
2021
pubmed:
19
2
2021
medline:
27
1
2022
entrez:
18
2
2021
Statut:
ppublish
Résumé
The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects.
Identifiants
pubmed: 33598806
doi: 10.1007/s10875-021-00980-1
pii: 10.1007/s10875-021-00980-1
pmc: PMC7889474
doi:
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
666-679Subventions
Organisme : NIAID NIH HHS
ID : P01 AI061093
Pays : United States
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