Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants.
next-generation sequencing
novel mutation
severe combined immunodeficiencies
Journal
Scandinavian journal of immunology
ISSN: 1365-3083
Titre abrégé: Scand J Immunol
Pays: England
ID NLM: 0323767
Informations de publication
Date de publication:
Jun 2022
Jun 2022
Historique:
revised:
08
03
2022
received:
18
10
2021
accepted:
13
03
2022
pubmed:
19
3
2022
medline:
15
6
2022
entrez:
18
3
2022
Statut:
ppublish
Résumé
Human Inborn Errors of Immunity (IEIs) are clinically and genetically heterogeneous group of diseases, with relatively mild clinical course or severe types that can be life-threatening. Severe combined immunodeficiency (SCID) is the most severe form of IEIs, which is caused by monogenic defects that impair the proliferation and function of T, B, and NK cells. According to the most recent report by the International Union of Immunological Societies (IUIS), SCID is caused by mutations in IL2RG, JAK3, FOXN1, CORO1A, PTPRC, CD3D, CD3E, CD247, ADA, AK2, NHEJ1, LIG4, PRKDC, DCLRE1C, RAG1 and RAG2 genes. The targeted next-generation sequencing (TNGS) workflow based on Ion AmpliSeq™ Primary Immune Deficiency Research Panel was designed for sequencing 264 IEI-related genes on Ion S5™ Sequencer. Herein, we present 21 disease-causing variants (12 novel) which were identified in 22 patients in eight different SCID genes. Next-generation sequencing allowed a rapid and an accurate diagnosis SCID patients.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e13163Informations de copyright
© 2022 The Scandinavian Foundation for Immunology.
Références
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