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Leiding, Jennifer W.; Vogel, Tiphanie P.; Santarlas, Valentine G. J.; Mhaskar, Rahul; Smith, Madison R.; Carisey, Alexandre; Vargas-Hernandez, Alexander; Silva-Carmona, Manuel; Heeg, Maximilian; Rensing-Ehl, Anne; Neven, Benedicte; Hadjadj, Jerome; Hambleton, Sophie; Leahy, Timothy Ronan; Meesilpavikai, Kornvalee; Cunningham-Rundles, Charlotte; Dutmer, Cullen M.; Sharapova, Svetlana O.; Taskinen, Mervi; Chua, Ignatius
{ "@context": "https://schema.org/", "@id": 269722, "@type": "ScholarlyArticle", "creator": [ { "@type": "Person", "name": "Leiding, Jennifer W." }, { "@type": "Person", "name": "Vogel, Tiphanie P." }, { "@type": "Person", "affiliation": "Lake Erie Coll Osteopath Med, Erie, PA USA", "name": "Santarlas, Valentine G. J." }, { "@type": "Person", "affiliation": "Univ S Florida, Dept Internal Med, Morsani Coll Med, Tampa, FL USA", "name": "Mhaskar, Rahul" }, { "@type": "Person", "name": "Smith, Madison R." }, { "@type": "Person", "affiliation": "St Jude Childrens Res Hosp, Dept Cell & Mol Biol, Memphis, TN USA", "name": "Carisey, Alexandre" }, { "@type": "Person", "name": "Vargas-Hernandez, Alexander" }, { "@type": "Person", "affiliation": "Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Houston, TX USA", "name": "Silva-Carmona, Manuel" }, { "@type": "Person", "affiliation": "Univ Freiburg, Med Ctr, Fac Med, Inst Immunodeficiency,Ctr Chron Immunodeficiency, Freiburg, Germany", "name": "Heeg, Maximilian" }, { "@type": "Person", "affiliation": "Univ Freiburg, Med Ctr, Fac Med, Inst Immunodeficiency,Ctr Chron Immunodeficiency, Freiburg, Germany", "name": "Rensing-Ehl, Anne" }, { "@type": "Person", "affiliation": "Inst Imagine, INSERM, UMR 1163, Lab Immunogenet Pediat Autoimmune Dis, Paris, France", "name": "Neven, Benedicte" }, { "@type": "Person", "affiliation": "Inst Imagine, INSERM, UMR 1163, Lab Immunogenet Pediat Autoimmune Dis, Paris, France", "name": "Hadjadj, Jerome" }, { "@type": "Person", "affiliation": "Newcastle Univ, Translat & Clin Res Inst, Newcastle Upon Tyne, Tyne & Wear, England", "name": "Hambleton, Sophie" }, { "@type": "Person", "affiliation": "Childrens Hlth Ireland Crumlin, Dublin, Ireland", "name": "Leahy, Timothy Ronan" }, { "@type": "Person", "name": "Meesilpavikai, Kornvalee" }, { "@type": "Person", "affiliation": "Mt Sinai Sch Med, Dept Med, New York, NY USA", "name": "Cunningham-Rundles, Charlotte" }, { "@type": "Person", "affiliation": "Univ Colorado, Sch Med, Childrens Hosp Colorado, Aurora, CO USA", "name": "Dutmer, Cullen M." }, { "@type": "Person", "affiliation": "Belarusian Res Ctr Pediat Oncol Hematol & Immunol, Minsk, BELARUS", "name": "Sharapova, Svetlana O." }, { "@type": "Person", "name": "Taskinen, Mervi" }, { "@type": "Person", "name": "Chua, Ignatius" } ], "datePublished": "2023-01-01", "description": "<p>Background: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. Objective: This pivotal cohort study defines the scope, natural history, treatment, and overall survival of a large global cohort of patients with pathogenic STAT3 GOF variants. Methods: We identified 191 patients from 33 countries with 72 unique mutations. Inclusion criteria included symptoms of immune dysregulation and a biochemically confirmed germline heterozygous GOF variant in STAT3. Results: Overall survival was 88%, median age at onset of symptoms was 2.3 years, and median age at diagnosis was 12 years. Immune dysregulatory features were present in all patients: lymphoproliferation was the most common manifestation (73%); increased frequencies of double-negative (CD4-CD8-) T cells were found in 83% of patients tested. Autoimmune cytopenias were the second most common clinical manifestation (67%), followed by growth delay, enteropathy, skin disease, pulmonary disease, endocrinopathy, arthritis, autoimmune hepatitis, neurologic disease, vasculopathy, renal disease, and malignancy. Infections were reported in 72% of the cohort. A cellular and humoral immunodeficiency was observed in 37% and 51% of patients, respectively. Clinical symptoms dramatically improved in patients treated with JAK inhibitors, while a variety of other immunomodulatory treatment modalities were less efficacious. Thus far, 23 patients have undergone bone marrow transplantation, with a 62% survival rate. Conclusion: : STAT3 GOF patients present with a wide array of immune-mediated disease including lymphoproliferation, autoimmune cytopenias, and multisystem autoimmunity. Patient care tends to be siloed, without a clear treatment strategy. Thus, early identification and prompt treatment implementation are lifesaving for STAT3 GOF syndrome. (J Allergy Clin Immunol 2023;151:1081-95.)</p>", "headline": "Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome", "identifier": 269722, "image": "https://aperta.ulakbim.gov.tr/static/img/logo/aperta_logo_with_icon.svg", "license": "http://www.opendefinition.org/licenses/cc-by", "name": "Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome", "url": "https://aperta.ulakbim.gov.tr/record/269722" }
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