TY  - JOUR
AU  - Deya-Martinez, Angela
AU  - Riviere, Jaques G
AU  - Roxo-Junior, Persio
AU  - Ramakers, Jan
AU  - Bloomfield, Marketa
AU  - Guisado Hernandez, Paloma
AU  - Blanco Lobo, Pilar
AU  - Abu Jamra, Soraya Regina
AU  - Esteve-Sole, Ana
AU  - Kanderova, Veronika
AU  - Garcia-Garcia, Ana
AU  - Lopez-Corbeto, Mireia
AU  - Martinez Pomar, Natalia
AU  - Martin-Nalda, Andrea
AU  - Alsina, Laia
AU  - Neth, Olaf
AU  - Olbrich, Peter
PY  - 2022
DO  - 10.1007/s10875-022-01257-x
UR  - http://hdl.handle.net/10668/20620
T2  - Journal of clinical immunology
AB  - Since the first description of gain of function (GOF) mutations in signal transducer and activator of transcription (STAT) 1, more than 300 patients have been described with a broad clinical phenotype including infections and severe immune...
LA  - en
PB  - Springer New York LLC
KW  - Baricitinib
KW  - Children
KW  - Chronic mucocutaneous candidiasis
KW  - Inborn errors of immunity
KW  - JAK inhibitors
KW  - JAK-STAT pathway
KW  - Pediatrics
KW  - Primary immunodeficiency disease
KW  - Ruxolitinib
KW  - STAT1 GOF
KW  - Child
KW  - Gain of Function Mutation
KW  - Humans
KW  - Janus Kinase Inhibitors
KW  - Multicenter Studies as Topic
KW  - Retrospective Studies
KW  - STAT1 Transcription Factor
TI  - Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.
TY  - research article
VL  - 42
ER  -