This cohort illustrates the broad clinical spectrum of STAT1 GOF disease, including infectious, inflammatory, autoimmune, and hematological manifestations, and BCG disease and tuberculosis were observed in a subset of patients, highlighting the complexity of clinical presentation and the importance of comprehensive eva...
T. Cova-Guzmán, Satoshi Okada, M. Tsumura et al.· Frontiers in Immunology· 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
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