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Journal Abstract Search

397 related items for PubMed ID: 28914637

  • 21.
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  • 22. Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
    Kagawa R, Fujiki R, Tsumura M, Sakata S, Nishimura S, Itan Y, Kong XF, Kato Z, Ohnishi H, Hirata O, Saito S, Ikeda M, El Baghdadi J, Bousfiha A, Fujiwara K, Oleastro M, Yancoski J, Perez L, Danielian S, Ailal F, Takada H, Hara T, Puel A, Boisson-Dupuis S, Bustamante J, Casanova JL, Ohara O, Okada S, Kobayashi M.
    J Allergy Clin Immunol; 2017 Jul; 140(1):232-241. PubMed ID: 28011069
    [Abstract] [Full Text] [Related]

  • 23. 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
    [Abstract] [Full Text] [Related]

  • 24. STAT1 and STAT3 mutations: important lessons for clinical immunologists.
    Olbrich P, Freeman AF.
    Expert Rev Clin Immunol; 2018 Dec; 14(12):1029-1041. PubMed ID: 30280610
    [Abstract] [Full Text] [Related]

  • 25. 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
    [Abstract] [Full Text] [Related]

  • 26. 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
    [Abstract] [Full Text] [Related]

  • 27. 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
    [Abstract] [Full Text] [Related]

  • 28.
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  • 29.
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  • 30. 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
    [Abstract] [Full Text] [Related]

  • 31.
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  • 32. Novel STAT-3 gain-of-function variant with hypogammaglobulinemia and recurrent infection phenotype.
    Erdős M, Tsumura M, Kállai J, Lányi Á, Nyul Z, Balázs G, Okada S, Maródi L.
    Clin Exp Immunol; 2021 Sep; 205(3):354-362. PubMed ID: 34050927
    [Abstract] [Full Text] [Related]

  • 33. 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
    [Abstract] [Full Text] [Related]

  • 34. Type 1 Diabetes in STAT Protein Family Mutations: Regulating the Th17/Treg Equilibrium and Beyond.
    Fabbri M, Frixou M, Degano M, Fousteri G.
    Diabetes; 2019 Feb; 68(2):258-265. PubMed ID: 30665954
    [Abstract] [Full Text] [Related]

  • 35. 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
    [Abstract] [Full Text] [Related]

  • 36. 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 05; 44(4):85. PubMed ID: 38578354
    [Abstract] [Full Text] [Related]

  • 37. A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation.
    Meesilpavikkai K, Dik WA, Schrijver B, Nagtzaam NM, van Rijswijk A, Driessen GJ, van der Spek PJ, van Hagen PM, Dalm VA.
    Front Immunol; 2017 Apr 05; 8():274. PubMed ID: 28348565
    [Abstract] [Full Text] [Related]

  • 38. STAT1 gain-of-function and chronic demodicosis.
    Molho-Pessach V, Meltser A, Kamshov A, Ramot Y, Zlotogorski A.
    Pediatr Dermatol; 2020 Jan 05; 37(1):153-155. PubMed ID: 31637766
    [Abstract] [Full Text] [Related]

  • 39. Recurrent, Severe Aphthous Stomatitis and Mucosal Ulcers as Primary Manifestations of a Novel STAT1 Gain-of-Function Mutation.
    Erdős M, Jakobicz E, Soltész B, Tóth B, Bata-Csörgő Z, Maródi L.
    Front Immunol; 2020 Jan 05; 11():967. PubMed ID: 32547544
    [Abstract] [Full Text] [Related]

  • 40.
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