DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.
Cytoskeletal defects
DIAPH1
Immunodeficiency
Macrothrombocytopenia
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
09 Aug 2024
09 Aug 2024
Historique:
received:
23
03
2024
accepted:
26
07
2024
medline:
9
8
2024
pubmed:
9
8
2024
entrez:
9
8
2024
Statut:
epublish
Résumé
Loss of function mutations in Diaphanous related formin 1 (DIAPH1) are associated with seizures, cortical blindness, and microcephaly syndrome (SCBMS) and are recently linked to combined immunodeficiency. However, the extent of defects in T and innate lymphoid cells (ILCs) remain unexplored. Herein, we characterized the primary T, natural killer (NK) and helper ILCs of six patients carrying two novel loss of function mutation in DIAPH1 and Jurkat cells after DIAPH1 knockdown. Mutations were identified by whole exome sequencing. T-cell immunophenotyping, proliferation, migration, cytokine signaling, survival, and NK cell cytotoxicity were studied via flow cytometry-based assays, confocal microscopy, and real-time qPCR. CD4
Identifiants
pubmed: 39120629
doi: 10.1007/s10875-024-01777-8
pii: 10.1007/s10875-024-01777-8
doi:
Substances chimiques
DIAPH1 protein, human
0
Formins
0
Adaptor Proteins, Signal Transducing
0
Cytokines
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
175Informations de copyright
© 2024. The Author(s).
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