The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

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 Within days of completing this report, it was already out of date, evidenced by the frequent...

Full description

Saved in:
Bibliographic Details
Published inJournal of clinical immunology Vol. 41; no. 3; pp. 666 - 679
Main Authors Tangye, Stuart G., Al-Herz, Waleed, Bousfiha, Aziz, Cunningham-Rundles, Charlotte, Franco, Jose Luis, Holland, Steven M, Klein, Christoph, Morio, Tomohiro, Oksenhendler, Eric, Picard, Capucine, Puel, Anne, Puck, Jennifer, Seppänen, Mikko R. J., Somech, Raz, Su, Helen C, Sullivan, Kathleen E., Torgerson, Troy R., Meyts, Isabelle
Format Journal Article
LanguageEnglish
Published New York Springer US 01.04.2021
Springer Nature B.V
Subjects
Alleles
Biomedical and Life Sciences
Biomedicine
COVID-19 - complications
COVID-19 - epidemiology
COVID-19 - virology
Diagnosis, Differential
Disease Management
Genetic Association Studies - methods
Genetic diversity
Genetic Predisposition to Disease
Genotype
Humans
Immunity
Immunity - genetics
Immunology
Infectious Diseases
Inheritance Patterns
Internal Medicine
Medical Microbiology
Original
Original Article
Phenotype
Primary immunodeficiencies
Primary Immunodeficiency Diseases - diagnosis
Primary Immunodeficiency Diseases - epidemiology
Primary Immunodeficiency Diseases - genetics
Public Health Surveillance
Risk Factors
autoinflammatory disorders
primary immunodeficiencies
Inborn errors of immunity
immune dysregulation
Online AccessGet full text

Cover

More Information
Summary: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 Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity.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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 14
ObjectType-Review-3
content type line 23
ISSN:0271-9142
1573-2592
1573-2592
DOI:10.1007/s10875-021-00980-1