181 related articles for article (PubMed ID: 31512162)
1. 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]
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. 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]
4. Utility of ruxolitinib in a patient with chronic mucocutaneous candidiasis caused by STAT1 gain-of-function mutation.
Olivier N; Boralevi F; Fricain JC; Doutre MS
J Eur Acad Dermatol Venereol; 2022 Nov; 36(11):e899-e902. PubMed ID: 35696308
[No Abstract] [Full Text] [Related]
5. 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]
6. Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function.
Sampaio EP; Ding L; Rose SR; Cruz P; Hsu AP; Kashyap A; Rosen LB; Smelkinson M; Tavella TA; Ferre EMN; Wierman MK; Zerbe CS; Lionakis MS; Holland SM
J Allergy Clin Immunol; 2018 May; 141(5):1844-1853.e2. PubMed ID: 28859974
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation.
Higgins E; Al Shehri T; McAleer MA; Conlon N; Feighery C; Lilic D; Irvine AD
J Allergy Clin Immunol; 2015 Feb; 135(2):551-3. PubMed ID: 25662309
[No Abstract] [Full Text] [Related]
12. Primary immunodeficiency and chronic mucocutaneous candidiasis: pathophysiological, diagnostic, and therapeutic approaches.
Egri N; Esteve-Solé A; Deyà-Martínez À; Ortiz de Landazuri I; Vlagea A; García AP; Cardozo C; Garcia-Vidal C; Bartolomé CS; Español-Rego M; Yiyi L; Bosch-Amate X; Ferrando J; Yagüe J; Juan M; Alsina L
Allergol Immunopathol (Madr); 2021; 49(1):118-127. PubMed ID: 33528939
[TBL] [Abstract][Full Text] [Related]
13. Case Report: Disseminated
Chen K; Tan J; Qian S; Wu S; Chen Q
Front Immunol; 2021; 12():682350. PubMed ID: 34421897
[TBL] [Abstract][Full Text] [Related]
14. Identification of a distinct subset of disease-associated gain-of-function missense mutations in the STAT1 coiled-coil domain as system mutants.
Petersen J; Staab J; Bader O; Buhl T; Ivetic A; Meyer T
Mol Immunol; 2019 Oct; 114():30-40. PubMed ID: 31336247
[TBL] [Abstract][Full Text] [Related]
15. Recurrent, Severe Aphthous Stomatitis and Mucosal Ulcers as Primary Manifestations of a Novel
Erdős M; Jakobicz E; Soltész B; Tóth B; Bata-Csörgő Z; Maródi L
Front Immunol; 2020; 11():967. PubMed ID: 32547544
[TBL] [Abstract][Full Text] [Related]
16. Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1.
Carey B; Lambourne J; Porter S; Hodgson T
Oral Dis; 2019 Apr; 25(3):684-692. PubMed ID: 29702748
[TBL] [Abstract][Full Text] [Related]
17. 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]
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. A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.
Martinez-Martinez L; Martinez-Saavedra MT; Fuentes-Prior P; Barnadas M; Rubiales MV; Noda J; Badell I; Rodríguez-Gallego C; de la Calle-Martin O
Mol Immunol; 2015 Dec; 68(2 Pt C):597-605. PubMed ID: 26514428
[TBL] [Abstract][Full Text] [Related]
20. Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.
Takezaki S; Yamada M; Kato M; Park MJ; Maruyama K; Yamazaki Y; Chida N; Ohara O; Kobayashi I; Ariga T
J Immunol; 2012 Aug; 189(3):1521-6. PubMed ID: 22730530
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]