312 related articles for article (PubMed ID: 23541320)
1. 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]
2. 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]
3. Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.
Tabellini G; Vairo D; Scomodon O; Tamassia N; Ferraro RM; Patrizi O; Gasperini S; Soresina A; Giardino G; Pignata C; Lougaris V; Plebani A; Dotta L; Cassatella MA; Parolini S; Badolato R
J Allergy Clin Immunol; 2017 Aug; 140(2):553-564.e4. PubMed ID: 28069426
[TBL] [Abstract][Full Text] [Related]
4. Functional analysis of two STAT1 gain-of-function mutations in two Iranian families with autosomal dominant chronic mucocutaneous candidiasis.
Ostadi V; Sherkat R; Migaud M; Modaressadeghi SM; Casanova JL; Puel A; Nekooie-Marnany N; Ganjalikhani-Hakemi M
Med Mycol; 2021 Feb; 59(2):180-188. PubMed ID: 32526033
[TBL] [Abstract][Full Text] [Related]
5. 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]
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. Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.
Tsumura M; Okada S; Sakai H; Yasunaga S; Ohtsubo M; Murata T; Obata H; Yasumi T; Kong XF; Abhyankar A; Heike T; Nakahata T; Nishikomori R; Al-Muhsen S; Boisson-Dupuis S; Casanova JL; Alzahrani M; Shehri MA; Elghazali G; Takihara Y; Kobayashi M
Hum Mutat; 2012 Sep; 33(9):1377-87. PubMed ID: 22573496
[TBL] [Abstract][Full Text] [Related]
8. Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).
Zheng J; van de Veerdonk FL; Crossland KL; Smeekens SP; Chan CM; Al Shehri T; Abinun M; Gennery AR; Mann J; Lendrem DW; Netea MG; Rowan AD; Lilic D
Eur J Immunol; 2015 Oct; 45(10):2834-46. PubMed ID: 26255980
[TBL] [Abstract][Full Text] [Related]
9. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
Liu L; Okada S; Kong XF; Kreins AY; Cypowyj S; Abhyankar A; Toubiana J; Itan Y; Audry M; Nitschke P; Masson C; Toth B; Flatot J; Migaud M; Chrabieh M; Kochetkov T; Bolze A; Borghesi A; Toulon A; Hiller J; Eyerich S; Eyerich K; Gulácsy V; Chernyshova L; Chernyshov V; Bondarenko A; Grimaldo RM; Blancas-Galicia L; Beas IM; Roesler J; Magdorf K; Engelhard D; Thumerelle C; Burgel PR; Hoernes M; Drexel B; Seger R; Kusuma T; Jansson AF; Sawalle-Belohradsky J; Belohradsky B; Jouanguy E; Bustamante J; Bué M; Karin N; Wildbaum G; Bodemer C; Lortholary O; Fischer A; Blanche S; Al-Muhsen S; Reichenbach J; Kobayashi M; Rosales FE; Lozano CT; Kilic SS; Oleastro M; Etzioni A; Traidl-Hoffmann C; Renner ED; Abel L; Picard C; Maródi L; Boisson-Dupuis S; Puel A; Casanova JL
J Exp Med; 2011 Aug; 208(8):1635-48. PubMed ID: 21727188
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.
Yamazaki Y; Yamada M; Kawai T; Morio T; Onodera M; Ueki M; Watanabe N; Takada H; Takezaki S; Chida N; Kobayashi I; Ariga T
J Immunol; 2014 Nov; 193(10):4880-7. PubMed ID: 25288569
[TBL] [Abstract][Full Text] [Related]
15. A Human STAT1 Gain-of-Function Mutation Impairs CD8
Qian W; Miner CA; Ingle H; Platt DJ; Baldridge MT; Miner JJ
J Virol; 2019 Oct; 93(19):. PubMed ID: 31315996
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A novel STAT1 mutation associated with disseminated mycobacterial disease.
Sampaio EP; Bax HI; Hsu AP; Kristosturyan E; Pechacek J; Chandrasekaran P; Paulson ML; Dias DL; Spalding C; Uzel G; Ding L; McFarland E; Holland SM
J Clin Immunol; 2012 Aug; 32(4):681-689. PubMed ID: 22437822
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]