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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
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J.</subfield> <subfield code="u">Lake Erie Coll Osteopath Med, Erie, PA USA</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Mhaskar, Rahul</subfield> <subfield code="u">Univ S Florida, Dept Internal Med, Morsani Coll Med, Tampa, FL USA</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Smith, Madison R.</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Carisey, Alexandre</subfield> <subfield code="u">St Jude Childrens Res Hosp, Dept Cell & Mol Biol, Memphis, TN USA</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Vargas-Hernandez, Alexander</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Silva-Carmona, Manuel</subfield> <subfield code="u">Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Houston, TX USA</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Heeg, Maximilian</subfield> <subfield code="u">Univ Freiburg, Med Ctr, Fac Med, Inst Immunodeficiency,Ctr Chron Immunodeficiency, Freiburg, Germany</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Rensing-Ehl, Anne</subfield> <subfield code="u">Univ Freiburg, Med Ctr, Fac Med, Inst Immunodeficiency,Ctr Chron Immunodeficiency, Freiburg, Germany</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Neven, Benedicte</subfield> <subfield code="u">Inst Imagine, INSERM, UMR 1163, Lab Immunogenet Pediat Autoimmune Dis, Paris, France</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Hadjadj, Jerome</subfield> <subfield code="u">Inst Imagine, INSERM, UMR 1163, Lab Immunogenet Pediat Autoimmune Dis, Paris, France</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Hambleton, Sophie</subfield> <subfield code="u">Newcastle Univ, Translat & Clin Res Inst, Newcastle Upon Tyne, Tyne & Wear, England</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Leahy, Timothy Ronan</subfield> <subfield code="u">Childrens Hlth Ireland Crumlin, Dublin, Ireland</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Meesilpavikai, Kornvalee</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Cunningham-Rundles, Charlotte</subfield> <subfield code="u">Mt Sinai Sch Med, Dept Med, New York, NY USA</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Dutmer, Cullen M.</subfield> <subfield code="u">Univ Colorado, Sch Med, Childrens Hosp Colorado, Aurora, CO USA</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Sharapova, Svetlana O.</subfield> <subfield code="u">Belarusian Res Ctr Pediat Oncol Hematol & Immunol, Minsk, BELARUS</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Taskinen, Mervi</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Chua, Ignatius</subfield> </datafield> <datafield tag="909" ind1="C" ind2="4"> <subfield code="p">JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY</subfield> <subfield code="v">151</subfield> <subfield code="n">4</subfield> <subfield code="c">15</subfield> </datafield> <datafield tag="980" ind1=" " ind2=" "> <subfield code="a">user-tubitak-destekli-proje-yayinlari</subfield> </datafield> <datafield tag="540" ind1=" " ind2=" "> <subfield code="a">Creative Commons Attribution</subfield> <subfield code="u">http://www.opendefinition.org/licenses/cc-by</subfield> </datafield> <datafield tag="024" ind1=" " ind2=" "> <subfield code="a">10.1016/j.jaci.2022.09.002</subfield> <subfield code="2">doi</subfield> </datafield> <datafield tag="245" ind1=" " ind2=" "> <subfield code="a">Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome</subfield> </datafield> <datafield tag="100" ind1=" " ind2=" "> <subfield code="a">Leiding, Jennifer W.</subfield> </datafield> <datafield tag="909" ind1="C" ind2="O"> <subfield code="o">oai:aperta.ulakbim.gov.tr:269722</subfield> <subfield code="p">user-tubitak-destekli-proje-yayinlari</subfield> </datafield> <datafield tag="650" ind1="1" ind2="7"> <subfield code="2">opendefinition.org</subfield> <subfield code="a">cc-by</subfield> </datafield> <datafield tag="260" ind1=" " ind2=" "> <subfield code="c">2023-01-01</subfield> </datafield> <datafield tag="856" ind1="4" ind2=" "> <subfield code="u">https://aperta.ulakbim.gov.trrecord/269722/files/bib-ef0214ac-7672-4932-914b-10e2533b8ab5.txt</subfield> <subfield code="z">md5:deb0af42bc7b3edf5f3cefaa2c14554d</subfield> <subfield code="s">471</subfield> </datafield> <datafield tag="542" ind1=" " ind2=" "> <subfield code="l">open</subfield> </datafield> <controlfield tag="005">20240607140256.0</controlfield> <controlfield tag="001">269722</controlfield> <datafield tag="980" ind1=" " ind2=" "> <subfield code="a">publication</subfield> <subfield code="b">article</subfield> </datafield> <datafield tag="520" ind1=" " ind2=" "> <subfield code="a"><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></subfield> </datafield> </record>
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