DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans

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...

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Veröffentlicht in:	Journal of clinical immunology 2024-11, Vol.44 (8), p.175-175, Article 175
Hauptverfasser:	Azizoglu, Zehra Busra, Babayeva, Royala, Haskologlu, Zehra Sule, Acar, Mustafa Burak, Ayaz-Guner, Serife, Okus, Fatma Zehra, Alsavaf, Mohammad Bilal, Can, Salim, Basaran, Kemal Erdem, Canatan, Mehmed Fatih, Ozcan, Alper, Erkmen, Hasret, Leblebici, Can Berk, Yilmaz, Ebru, Karakukcu, Musa, Kose, Mehmet, Canoz, Ozlem, Özen, Ahmet, Karakoc-Aydiner, Elif, Ceylaner, Serdar, Gümüş, Gülsüm, Per, Huseyin, Gumus, Hakan, Canatan, Halit, Ozcan, Servet, Dogu, Figen, Ikinciogullari, Aydan, Unal, Ekrem, Baris, Safa, Eken, Ahmet
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing - deficiency Adaptor Proteins, Signal Transducing - genetics Adaptor Proteins, Signal Transducing - metabolism Biomedical and Life Sciences Biomedicine blindness CD4 antigen Cell activation Cell migration Cell proliferation Cell survival Child Child, Preschool Confocal microscopy Cytokines - metabolism Cytotoxicity Female Flow cytometry Formins - genetics Humans Immunity, Innate Immunodeficiency Immunology Immunophenotyping immunosuppression Infectious Diseases Interleukin 2 interleukin-15 interleukin-7 Internal Medicine Jurkat Cells Killer Cells, Natural - immunology Killer Cells, Natural - metabolism Lymphocytes T Lymphoid cells Male mass spectrometry Mass spectroscopy Medical Microbiology mRNA Mutation Natural killer cells Peripheral blood Phosphorylation protein content proteome Proteomes Seizures Signal Transduction Stat5 protein T-lymphocytes T-Lymphocytes - immunology T-Lymphocytes - metabolism Whole genome sequencing
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