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
A systematic review of the prevalence and predictors of bronchiectasis among children and adults with IEI globally to provide robust, contemporary, and comprehensive estimates of bronchiectasis prevalence and predictors.
D. Marangu-Boore, M. Maina, Alicia A. Livinski et al.· Systematic Reviews· 0 citations
It is found that in patients with STAT3 GOF, CD8+ T cells exist in an activated state and a dysregulated purinergic signaling axis plays a key role in CD8+ T cell dysregulation in STAT3 GOF and may have implications for other rare monogenic immune disorders and common inflammatory disorders.
Jose S. Campos Duran, Montana Knight, Samir U. Sayed et al.· JCI Insight· 0 citations
This platform enables mechanistic studies of thymic stromal dysfunction and advances understanding of immune deficits in these disorders and reveals disease-specific mesenchymal defects underlying thymic abnormalities in congenital syndromes.
Giuseppe Sangiorgio, Francesca Pala, Kayla Amini et al.· Journal of Immunology· 0 citations
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