Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing.
Inborn errors of immunity
Next-generation sequencing
Primary immunodeficiency
Whole-exome sequencing
Whole-genome sequencing
Journal
Molecular immunology
ISSN: 1872-9142
Titre abrégé: Mol Immunol
Pays: England
ID NLM: 7905289
Informations de publication
Date de publication:
09 2021
09 2021
Historique:
received:
03
05
2021
revised:
18
06
2021
accepted:
23
06
2021
pubmed:
4
7
2021
medline:
29
9
2021
entrez:
3
7
2021
Statut:
ppublish
Résumé
Patients with inborn errors of immunity (IEI) present with a heterogeneous clinical and immunological phenotype, therefore a correct molecular diagnosis is crucial for the classification and subsequent therapeutic management. On the other hand, IEI are a group of rare congenital diseases with highly diverse features and, in most cases, an as yet unknown genetic etiology. Next generation sequencing has facilitated genetic examinations of rare inherited disorders during the recent years, thus allowing a suitable molecular diagnosis in the IEI patients. This review aimed to investigate the current findings about these techniques in the field of IEI, suggesting an efficient stepwise approach to molecular diagnosis of inborn errors of immunity.
Identifiants
pubmed: 34216999
pii: S0161-5890(21)00193-0
doi: 10.1016/j.molimm.2021.06.018
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
57-66Informations de copyright
Copyright © 2021. Published by Elsevier Ltd.