Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature

Autor: Deyà-Martinez A, Rivière JG, Roxo-Junior P, Ramakers J, Bloomfield M, Guisado Hernandez P, Blanco Lobo P, Abu Jamra SR, Esteve-Sole A, Kanderova V, Ana Pilar García García, Lopez-Corbeto M, Martinez Pomar N, Martín-Nalda A, Alsina L, Neth O, Olbrich P

Publikováno v: JOURNAL OF CLINICAL IMMUNOLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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INTRODUCTION: 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 imm

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Retrospective identification of the first cord blood–transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background.

Autor: Fink, Franz-Martin, Höpfl, Reinhard, Witsch-Baumgartner, Martina, Kropshofer, Gabriele, Martin, Sabine, Fink, Valentin, Heeg, Maximilian, Peters, Christina, Zschocke, Johannes, Haas, Oskar A.

Publikováno v: Frontiers in Immunology; 2024, p1-9, 9p

STAT1 Gain-of-Function and Hidradenitis Suppurativa Successfully Managed with Baricitinib.

Autor: Olbrich P; Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, IBiS/Universidad de Sevilla/CSIC, Red de Investigación Translacional en Infectología Pediátrica RITIP, Av Manuel Siurot S/N, 41013, Seville, Spain.; Departamento de Farmacología, Pediatría y Radiología. Facultad de Medicina, Universidad de Sevilla, Seville, Spain., Cortés JI; Servicio de Reumatología, Hospital Universitari I Politècnic La Fe, Valencia, Spain., Neth O; Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, IBiS/Universidad de Sevilla/CSIC, Red de Investigación Translacional en Infectología Pediátrica RITIP, Av Manuel Siurot S/N, 41013, Seville, Spain. oneth-ibis@us.es., Blanco-Lobo P; Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, IBiS/Universidad de Sevilla/CSIC, Red de Investigación Translacional en Infectología Pediátrica RITIP, Av Manuel Siurot S/N, 41013, Seville, Spain.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2023 Jul; Vol. 43 (5), pp. 898-901. Date of Electronic Publication: 2023 Mar 07.

Signal Transducer and Activator of Transcription Proteins at the Nexus of Immunodeficiency, Autoimmunity and Cancer.

Autor: Liongue, Clifford, Sobah, Mohamed Luban, Ward, Alister C.

Publikováno v: Biomedicines; Jan2024, Vol. 12 Issue 1, p45, 14p