Výsledky vyhledávání - "Cedric Mongellaz"

A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8 + T cells

Autor: Royala Babayeva, Cedric Mongellaz, Ibrahim Serhat Karakus, Murat Cansever, Sevgi Bilgic Eltan, Mehmet Cihangir Catak, Alper Bulutoglu, Yasemin Kendir Demirkol, Metin Eser, Elif Karakoc‐Aydiner, Ahmet Ozen, Valérie S. Zimmermann, Naomi Taylor, Safa Baris

Publikováno v: Pediatric Allergy and Immunology. 33

Patients with deficiency of zeta-chain-associated protein kinase 70 (ZAP-70) protein generally present as combined immunodeficiency (CID) with severe recurrent infections and dermatological findings during the first years of life. They also suffer fr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc6dc32537aa3c3102327bcb81a492d6
https://doi.org/10.1111/pai.13756

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Author response for 'A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8 + T cells'

Autor: null Royala Babayeva, null Cedric Mongellaz, null Ibrahim Serhat Karakus, null Murat Cansever, null Sevgi Bilgic Eltan, null Mehmet Cihangir Catak, null Alper Bulutoglu, null Yasemin Kendir Demirkol, null Metin Eser, null Elif Karakoc‐Aydiner, null Ahmet Ozen, null Valérie S. Zimmermann, null Naomi Taylor, null Safa Baris

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f4951ca807c26d607ee9f8bd2980f5d
https://doi.org/10.1111/pai.13756/v2/response1

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Akademický článek

Combined immunodeficiency caused by pathogenic variants in the ZAP70 C-terminal SH2 domain

Autor: Cédric Mongellaz, Rita Vicente, Lenora M. Noroski, Nelly Noraz, Valérie Courgnaud, Javier Chinen, Emilia Faria, Valérie S. Zimmermann, Naomi Taylor

Publikováno v: Frontiers in Immunology, Vol 14 (2023)

IntroductionZAP-70, a protein tyrosine kinase recruited to the T cell receptor (TCR), initiates a TCR signaling cascade upon antigen stimulation. Mutations in the ZAP70 gene cause a combined immunodeficiency characterized by low or absent CD8+ T cell

Externí odkaz: https://doaj.org/article/9b8b9c74f3a9402ea679547b0d87cb55

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Akademický článek

Regulatory T cell differentiation is controlled by αKG-induced alterations in mitochondrial metabolism and lipid homeostasis

Publikováno v: Cell Reports, Vol 37, Iss 5, Pp 109911- (2021)

Summary: Suppressive regulatory T cell (Treg) differentiation is controlled by diverse immunometabolic signaling pathways and intracellular metabolites. Here we show that cell-permeable α-ketoglutarate (αKG) alters the DNA methylation profile of na

Externí odkaz: https://doaj.org/article/0c8c5ea249b7400aa1ce379f1a846ac3

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