BACKGROUND
Although antigenemia is associated with poor outcomes in respiratory viral infections, the underlying mechanisms driving viral bloodstream dissemination remain not fully understood. Herein, we aimed to characterise SARS-CoV-2 nucleocapsid (N)-antigenemia kinetics in patients with severe COVID-19. We also sou...
W. Mouton, K. Saker, Priscille Franc et al.· EBioMedicine· 0 citations
We previously reported inherited retinoic acid-related orphan receptor γ T (RORγT) deficiency in seven patients from three ancestries (Chilean, Palestinian, and Saudi Arabian) with mycobacterial disease and chronic mucocutaneous candidiasis (CMC). We report here five additional patients from different ancestries (Afgha...
I. Fagniez, M. Tsumura, A. Guérin et al.· Journal of Experimental Medi...· 0 citations
The 5' untranslated region (5'UTR) regulates protein output through upstream open reading frames (uORFs) and Kozak context, yet most deleteriousness scores rely heavily on evolutionary conservation of its nucleotide positions. Using 5ULTRA, a machine-learning classifier trained on 5'UTR regulatory biology, we annotated...
In this News & Views, we discuss two studies reporting autosomal recessive OSMRβ deficiency as a new inborn error of immunity marked by severe atopy, hyper-IgE, and eosinophilia, thereby refining the genetic dissection of STAT3-dependent hyper-IgE syndrome.
A. Puel, J. Casanova, V. Béziat· Journal of human immunity· 0 citations
Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) disease is associated with chronic mucocutaneous candidiasis, infections, autoimmunity, and immune dysregulation; however, mutation-level determinants of phenotypic variability remain incompletely defined. We aimed to describe the clinica...
B. C. Duran, C. Aytekin, M. Tsumura et al.· Scandinavian Journal of Immu...· 0 citations
Together, these discoveries redefine pediatric FVH as an immunopathological syndrome and provide a framework for targeted genetic and serologic diagnosis and for mechanism-based interventions aimed at improving survival.
M. Bousfiha, Dalal Ben Sabbahia, E. Jouanguy et al.· Frontiers in Immunology· 0 citations
FuncVEP, a family of variant effect predictors trained on diverse functional data to predict the functional impact of missense variants, provides a robust, scalable solution for variant interpretation, advancing both diagnostic precision and gene discovery.
Barış Kayaalp, K. Çil, C. Conil et al.· Nature Genetics· 0 citations
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