The functional consequences of a TBK1-variant bearing a truncation in exon 4 and 5 in a patient with poly arthritis resembling juvenile idiopathic arthritis and necrotizing encephalitis are characterized and may provide insight into the management of immune dysregulation in affected patients.
Büşra Şeniz Demir, S. Çiçek, M. Houran et al.· Immunologic research· 0 citations
Findings indicate that the FLNA p.Pro2469Ser variant identified in a pediatric patient presenting with recurrent infections and inflammatory manifestations is associated with altered immune-cell signaling, disturbed cortical cytoskeletal organization, and immune dysregulation.
Ş. Erdem, A. Kısaarslan, M. B. Acar et al.· Immunologic research· 0 citations
Pediatric immune thrombocytopenia (ITP) is an autoimmune cytopenia characterized by immune-mediated platelet destruction and impaired thrombopoiesis. Mucosa-associated invariant T (MAIT) cells are innate-like T cells activated by MR1-presented microbial metabolites and inflammatory cytokines, but their role in pediatri...
Ekrem Ünal, Z. B. Azizoğlu, Metin Çil et al.· International Immunopharmaco...· 1 citation
Pediatric CF is associated with selective alterations in circulating type 3 and regulatory immune responses, characterized by increased IL-22-producing lymphocyte populations, reduced plasma IL-17 A concentrations, and increased numbers of CD3⁺IL-10⁺ cells.
Tugba Nur Gur, Z. B. Azizoğlu, Yesim Haliloğlu et al.· Molecular Biology Reports· 0 citations
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