54 related articles for article (PubMed ID: 33096415)
1. 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]
2. Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.
Zerbe CS; Marciano BE; Katial RK; Santos CB; Adamo N; Hsu AP; Hanks ME; Darnell DN; Quezado MM; Frein C; Barnhart LA; Anderson VL; Uzel G; Freeman AF; Lisco A; Nath A; Major EO; Sampaio EP; Holland SM
Clin Infect Dis; 2016 Apr; 62(8):986-94. PubMed ID: 26743090
[TBL] [Abstract][Full Text] [Related]
3. STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult.
Andou M; Tominaga M; Nishikomori R; Gotoh K; Komatsu N; Matsuoka M; Kawayama T; Hoshino T
Intern Med; 2024 May; 63(9):1269-1271. PubMed ID: 37779067
[TBL] [Abstract][Full Text] [Related]
4. Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.
Asano T; Noma K; Mizoguchi Y; Karakawa S; Okada S
Immunol Rev; 2024 Mar; 322(1):81-97. PubMed ID: 38084635
[TBL] [Abstract][Full Text] [Related]
5. Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
Sampaio EP; Hsu AP; Pechacek J; Bax HI; Dias DL; Paulson ML; Chandrasekaran P; Rosen LB; Carvalho DS; Ding L; Vinh DC; Browne SK; Datta S; Milner JD; Kuhns DB; Long Priel DA; Sadat MA; Shiloh M; De Marco B; Alvares M; Gillman JW; Ramarathnam V; de la Morena M; Bezrodnik L; Moreira I; Uzel G; Johnson D; Spalding C; Zerbe CS; Wiley H; Greenberg DE; Hoover SE; Rosenzweig SD; Galgiani JN; Holland SM
J Allergy Clin Immunol; 2013 Jun; 131(6):1624-34. PubMed ID: 23541320
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Recapitulating primary immunodeficiencies with expanded potential stem cells: Proof of concept with STAT1 gain of function.
Liu X; Chan VSF; Smith KGC; Ming C; Or CS; Tsui FTW; Gao B; Cook MC; Liu P; Lau CS; Li PH
J Allergy Clin Immunol; 2024 Apr; 153(4):1125-1139. PubMed ID: 38072195
[TBL] [Abstract][Full Text] [Related]
9. Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations.
Chen R; Mu H; Chen X; Tsumura M; Zhou L; Jiang X; Zhang Z; Tang X; Chen Y; Jia Y; Okada S; Zhao X; An Y
J Clin Immunol; 2024 May; 44(5):124. PubMed ID: 38758476
[TBL] [Abstract][Full Text] [Related]
10. Novel
Hou F; Zhang T; Chen F; Jiang L
BMJ Case Rep; 2023 Dec; 16(12):. PubMed ID: 38154872
[TBL] [Abstract][Full Text] [Related]
11. Emapalumab as bridge to hematopoietic cell transplant for STAT1 gain-of-function mutations.
Kunvarjee B; Bidgoli A; Madan RP; Vidal E; McAvoy D; Hosszu KK; Scaradavou A; Spitzer BG; Curran KJ; Cancio M; Harris AC; O'Reilly RJ; Kung AL; Prockop S; Boelens JJ; Oved JH
J Allergy Clin Immunol; 2023 Sep; 152(3):815-817. PubMed ID: 37367708
[No 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. Chronic Mucocutaneous Candidiasis Due to STAT1 Gene Variant.
Jing D; Liang G; Li X
JAMA Dermatol; 2024 May; 160(5):565-566. PubMed ID: 38598233
[TBL] [Abstract][Full Text] [Related]
14. Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain.
Acres MJ; Gothe F; Grainger A; Skelton AJ; Swan DJ; Willet JDP; Leech S; Galcheva S; Iotova V; Hambleton S; Engelhardt KR
J Allergy Clin Immunol; 2019 Jan; 143(1):413-416.e4. PubMed ID: 30205186
[No Abstract] [Full Text] [Related]
15. Leveraging Systems Immunology to Optimize Diagnosis and Treatment of Inborn Errors of Immunity.
Mauracher AA; Henrickson SE
Front Syst Biol; 2022; 2():. PubMed ID: 37670772
[TBL] [Abstract][Full Text] [Related]
16. The pathogenic T387A missense mutation in the gene encoding signal transducer and activator of transcription 1 exhibits a differential gene expression profile.
Staab J; Schwämmle T; Meyer T
Mol Immunol; 2020 Dec; 128():79-88. PubMed ID: 33096415
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.
Fujiki R; Hijikata A; Shirai T; Okada S; Kobayashi M; Ohara O
J Biol Chem; 2017 Apr; 292(15):6240-6254. PubMed ID: 28258222
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
