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
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
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