Gain-of-function (GOF) mutations affecting the coiled-coil domain or the DNA-binding domain of signal transducer and activator of transcription 1 (STAT1) cause chronic mucocutaneous candidiasis disease. This condition is characterized by fungal and bacterial infections caused by impaired generation of TH17 cells; meanwhile, some patients with chronic mucocutaneous candidiasis disease might also have viral or intracellular pathogen infections.
Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations / Tabellini, G., Vairo, D., Scomodon, O., Tamassia, N., Ferraro, R.M., Patrizi, O., Gasperini, S., Soresina, A., Giardino, G., Pignata, C., Lougaris, V., Plebani, A., Dotta, L., Cassatella, M.A., Parolini, S., Badolato, R.. - In: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. - ISSN 0091-6749. - 140:(2017), pp. 553-564. [10.1016/j.jaci.2016.10.051]
Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations
GIARDINO, GIULIANA;PIGNATA, CLAUDIO;BADOLATO, RAFFAELE
2017
Abstract
Gain-of-function (GOF) mutations affecting the coiled-coil domain or the DNA-binding domain of signal transducer and activator of transcription 1 (STAT1) cause chronic mucocutaneous candidiasis disease. This condition is characterized by fungal and bacterial infections caused by impaired generation of TH17 cells; meanwhile, some patients with chronic mucocutaneous candidiasis disease might also have viral or intracellular pathogen infections.| File | Dimensione | Formato | |
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