These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

336 related articles for article (PubMed ID: 33475942)

  • 1. Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation.
    Kayaoglu B; Kasap N; Yilmaz NS; Charbonnier LM; Geckin B; Akcay A; Eltan SB; Ozturk G; Ozen A; Karakoc-Aydiner E; Chatila TA; Gursel M; Baris S
    J Clin Immunol; 2021 May; 41(4):769-779. PubMed ID: 33475942
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.
    Bloomfield M; Kanderová V; Paračková Z; Vrabcová P; Svatoň M; Froňková E; Fejtková M; Zachová R; Rataj M; Zentsová I; Milota T; Klocperk A; Kalina T; Šedivá A
    J Clin Immunol; 2018 Jul; 38(5):589-601. PubMed ID: 29934865
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1.
    Baris S; Alroqi F; Kiykim A; Karakoc-Aydiner E; Ogulur I; Ozen A; Charbonnier LM; Bakır M; Boztug K; Chatila TA; Barlan IB
    J Clin Immunol; 2016 Oct; 36(7):641-8. PubMed ID: 27379765
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.
    Weinacht KG; Charbonnier LM; Alroqi F; Plant A; Qiao Q; Wu H; Ma C; Torgerson TR; Rosenzweig SD; Fleisher TA; Notarangelo LD; Hanson IC; Forbes LR; Chatila TA
    J Allergy Clin Immunol; 2017 May; 139(5):1629-1640.e2. PubMed ID: 28139313
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation.
    Moriya K; Suzuki T; Uchida N; Nakano T; Katayama S; Irie M; Rikiishi T; Niizuma H; Okada S; Imai K; Sasahara Y; Kure S
    Int J Hematol; 2020 Aug; 112(2):258-262. PubMed ID: 32180118
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib.
    Dotta L; Todaro F; Baronio M; Giacomelli M; Pinelli M; Giambarda M; Brognoli B; Greco S; Rota F; Cortesi M; Soresina A; Moratto D; Tomasi C; Ferraro RM; Giliani S; Badolato R
    J Clin Immunol; 2024 Apr; 44(4):85. PubMed ID: 38578354
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Case report: A STAT1 gain-of-function mutation causes a syndrome of combined immunodeficiency, autoimmunity and pure red cell aplasia.
    Xie Y; Shao F; Lei J; Huang N; Fan Z; Yu H
    Front Immunol; 2022; 13():928213. PubMed ID: 36105803
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation.
    Kiykim A; Charbonnier LM; Akcay A; Karakoc-Aydiner E; Ozen A; Ozturk G; Chatila TA; Baris S
    J Clin Immunol; 2019 Jan; 39(1):37-44. PubMed ID: 30543054
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations.
    Lobo PB; Guisado-Hernández P; Villaoslada I; de Felipe B; Carreras C; Rodriguez H; Carazo-Gallego B; Méndez-Echevarria A; Lucena JM; Aljaro PO; Castro MJ; Noguera-Uclés JF; Milner JD; McCann K; Zimmerman O; Freeman AF; Lionakis MS; Holland SM; Neth O; Olbrich P
    J Clin Immunol; 2022 Aug; 42(6):1193-1204. PubMed ID: 35507130
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.
    Al Shehri T; Gilmour K; Gothe F; Loughlin S; Bibi S; Rowan AD; Grainger A; Mohanadas T; Cant AJ; Slatter MA; Hambleton S; Lilic D; Leahy TR
    J Clin Immunol; 2019 Nov; 39(8):776-785. PubMed ID: 31512162
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.
    Lei WT; Lo YF; Tsumura M; Ding JY; Lo CC; Lin YN; Wang CW; Liu LH; Shih HP; Peng JJ; Wu TY; Chan YP; Kang CX; Wang SY; Kuo CY; Tu KH; Yeh CF; Hsieh YJ; Asano T; Chung WH; Okada S; Ku CL
    J Clin Immunol; 2024 Aug; 44(8):184. PubMed ID: 39177867
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF.
    Koh JY; Kim DR; Son S; Park H; Kim KR; Min S; Lee HS; Jhun BW; Kang ES; Jung I; Kang JM; Kim YJ; Shin EC
    J Clin Immunol; 2024 Apr; 44(4):84. PubMed ID: 38578320
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.
    Okada S; Asano T; Moriya K; Boisson-Dupuis S; Kobayashi M; Casanova JL; Puel A
    J Clin Immunol; 2020 Nov; 40(8):1065-1081. PubMed ID: 32852681
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
    Depner M; Fuchs S; Raabe J; Frede N; Glocker C; Doffinger R; Gkrania-Klotsas E; Kumararatne D; Atkinson TP; Schroeder HW; Niehues T; Dückers G; Stray-Pedersen A; Baumann U; Schmidt R; Franco JL; Orrego J; Ben-Shoshan M; McCusker C; Jacob CM; Carneiro-Sampaio M; Devlin LA; Edgar JD; Henderson P; Russell RK; Skytte AB; Seneviratne SL; Wanders J; Stauss H; Meyts I; Moens L; Jesenak M; Kobbe R; Borte S; Borte M; Wright DA; Hagin D; Torgerson TR; Grimbacher B
    J Clin Immunol; 2016 Jan; 36(1):73-84. PubMed ID: 26604104
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
    Zhang W; Chen X; Gao G; Xing S; Zhou L; Tang X; Zhao X; An Y
    Front Immunol; 2021; 12():654406. PubMed ID: 33777053
    [No Abstract]   [Full Text] [Related]  

  • 16. Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.
    Vargas-Hernández A; Mace EM; Zimmerman O; Zerbe CS; Freeman AF; Rosenzweig S; Leiding JW; Torgerson T; Altman MC; Schussler E; Cunningham-Rundles C; Chinn IK; Carisey AF; Hanson IC; Rider NL; Holland SM; Orange JS; Forbes LR
    J Allergy Clin Immunol; 2018 Jun; 141(6):2142-2155.e5. PubMed ID: 29111217
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
    Uzel G; Sampaio EP; Lawrence MG; Hsu AP; Hackett M; Dorsey MJ; Noel RJ; Verbsky JW; Freeman AF; Janssen E; Bonilla FA; Pechacek J; Chandrasekaran P; Browne SK; Agharahimi A; Gharib AM; Mannurita SC; Yim JJ; Gambineri E; Torgerson T; Tran DQ; Milner JD; Holland SM
    J Allergy Clin Immunol; 2013 Jun; 131(6):1611-23. PubMed ID: 23534974
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Neutrophils in STAT1 Gain-Of-Function Have a Pro-inflammatory Signature Which Is Not Rescued by JAK Inhibition.
    Parackova Z; Vrabcova P; Zentsova I; Sediva A; Bloomfield M
    J Clin Immunol; 2023 Oct; 43(7):1640-1659. PubMed ID: 37358695
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.
    Deyà-Martínez A; Rivière JG; Roxo-Junior P; Ramakers J; Bloomfield M; Guisado Hernandez P; Blanco Lobo P; Abu Jamra SR; Esteve-Sole A; Kanderova V; García-García A; Lopez-Corbeto M; Martinez Pomar N; Martín-Nalda A; Alsina L; Neth O; Olbrich P
    J Clin Immunol; 2022 Jul; 42(5):1071-1082. PubMed ID: 35486339
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.
    Leiding JW; Okada S; Hagin D; Abinun M; Shcherbina A; Balashov DN; Kim VHD; Ovadia A; Guthery SL; Pulsipher M; Lilic D; Devlin LA; Christie S; Depner M; Fuchs S; van Royen-Kerkhof A; Lindemans C; Petrovic A; Sullivan KE; Bunin N; Kilic SS; Arpaci F; Calle-Martin O; Martinez-Martinez L; Aldave JC; Kobayashi M; Ohkawa T; Imai K; Iguchi A; Roifman CM; Gennery AR; Slatter M; Ochs HD; Morio T; Torgerson TR;
    J Allergy Clin Immunol; 2018 Feb; 141(2):704-717.e5. PubMed ID: 28601685
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.