title: Novel STAT1 gain-of-function mutation and suppurative infections.
authors.affiliation: Department of Translational Medical Sciences, Federico II University, Naples, Italy.
authors.forename: Giuliana
authors.initials: G
authors.lastname: Giardino
authors.affiliation: Department of Molecular Medicine and Medical Biotechnology, Federico II University of Naples, Naples, Italy.
authors.forename: Domenico
authors.initials: D
authors.lastname: Somma
authors.affiliation: Department of Translational Medical Sciences, Federico II University, Naples, Italy.
authors.forename: Emilia
authors.initials: E
authors.lastname: Cirillo
authors.affiliation: Department of Translational Medical Sciences, Federico II University, Naples, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Ruggiero
authors.affiliation: Department of Translational Medical Sciences, Federico II University, Naples, Italy.|Department of Science, University of Basilicata, Potenza, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Terrazzano
authors.affiliation: Department of Translational Medical Sciences, Federico II University, Naples, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Rubino
authors.affiliation: International Institute of Genetics and Biophysics, IGB-CNR, Naples, Italy.
authors.forename: Matilde Valeria
authors.initials: MV
authors.lastname: Ursini
authors.affiliation: Department of Molecular and Translational Medicine, Institute of Molecular Medicine 'Angelo Nocivelli', University of Brescia and SpedaliCivili of Brescia, Brescia, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Vairo
authors.affiliation: Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute of Molecular Medicine 'Angelo Nocivelli', University of Brescia and SpedaliCivili of Brescia, Brescia, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Badolato
authors.affiliation: Research Center, Ospedale Pediatrico Bambino Gesù (IRCCS), Rome, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Carsetti
authors.affiliation: Department of Molecular Medicine and Medical Biotechnology, Federico II University of Naples, Naples, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Leonardi
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, UMR, Paris, France.|Imagine Institute, Paris Descartes University, Paris, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Puel
authors.affiliation: Department of Translational Medical Sciences, Federico II University, Naples, Italy. pignata@unina.it.
authors.forename: Claudio
authors.initials: C
authors.lastname: Pignata
mesh_terms: D000293:Adolescent; D015496:CD4-Positive T-Lymphocytes / Q000502:physiology*; D002178:Candidiasis, Chronic Mucocutaneous / Q000188:drug therapy / Q000235:genetics*; D002478:Cells, Cultured; D002648:Child; D004252:DNA Mutational Analysis; D015725:Fluconazole / Q000627:therapeutic use; D006566:Herpesviridae Infections / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007371:Interferon-gamma / Q000378:metabolism; D008213:Lymphocyte Activation / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D050794:STAT1 Transcription Factor / Q000235:genetics*
chemical_list: D050794:STAT1 Transcription Factor; C494079:STAT1 protein, human; D007371:Interferon-gamma; D015725:Fluconazole