Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients.
PI3K
PIK3CD
activated phosphoinositide 3-kinase delta syndrome 1
lymphoproliferation
p110δ
primary combined immune deficiency
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
17 Oct 2020
17 Oct 2020
Historique:
received:
24
09
2020
revised:
14
10
2020
accepted:
15
10
2020
entrez:
21
10
2020
pubmed:
22
10
2020
medline:
22
10
2020
Statut:
epublish
Résumé
Activated phosphoinositide 3-kinase delta syndrome 1 (APDS-1) is a recently described inborn error of immunity caused by monoallelic gain-of-function mutations in the
Identifiants
pubmed: 33080915
pii: jcm9103335
doi: 10.3390/jcm9103335
pmc: PMC7603210
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : European Community's Seventh Framework Programme
ID : EURO-PADnet HEALTH-F2-2008-201549
Organisme : Italian Ministerial Grant
ID : GR-2010-2315762
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