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V. Béziat

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2 papers indexed here

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Open access Aug 2026

Autosomal recessive OSMRβ deficiency: Connecting OSM and/or IL-31 with atopy

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 · 0 citations
Case report Open access Sep 2026

Mild Phenotype in Functionally Validated STAT1 Gain-of-Function Disease Due to a Novel DNA-Binding Variant.

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. · 0 citations

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