1 Ocak 2023 Dergi makalesi Açık Erişim

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

DataCite XML

<?xml version='1.0' encoding='utf-8'?>
<resource xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns="http://datacite.org/schema/kernel-4" xsi:schemaLocation="http://datacite.org/schema/kernel-4 http://schema.datacite.org/meta/kernel-4.1/metadata.xsd">
  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/269722</identifier>
  <creators>
    <creator>
      <creatorName>Leiding, Jennifer W.</creatorName>
      <givenName>Jennifer W.</givenName>
      <familyName>Leiding</familyName>
    </creator>
    <creator>
      <creatorName>Vogel, Tiphanie P.</creatorName>
      <givenName>Tiphanie P.</givenName>
      <familyName>Vogel</familyName>
    </creator>
    <creator>
      <creatorName>Santarlas, Valentine G. J.</creatorName>
      <givenName>Valentine G. J.</givenName>
      <familyName>Santarlas</familyName>
      <affiliation>Lake Erie Coll Osteopath Med, Erie, PA USA</affiliation>
    </creator>
    <creator>
      <creatorName>Mhaskar, Rahul</creatorName>
      <givenName>Rahul</givenName>
      <familyName>Mhaskar</familyName>
      <affiliation>Univ S Florida, Dept Internal Med, Morsani Coll Med, Tampa, FL USA</affiliation>
    </creator>
    <creator>
      <creatorName>Smith, Madison R.</creatorName>
      <givenName>Madison R.</givenName>
      <familyName>Smith</familyName>
    </creator>
    <creator>
      <creatorName>Carisey, Alexandre</creatorName>
      <givenName>Alexandre</givenName>
      <familyName>Carisey</familyName>
      <affiliation>St Jude Childrens Res Hosp, Dept Cell &amp; Mol Biol, Memphis, TN USA</affiliation>
    </creator>
    <creator>
      <creatorName>Vargas-Hernandez, Alexander</creatorName>
      <givenName>Alexander</givenName>
      <familyName>Vargas-Hernandez</familyName>
    </creator>
    <creator>
      <creatorName>Silva-Carmona, Manuel</creatorName>
      <givenName>Manuel</givenName>
      <familyName>Silva-Carmona</familyName>
      <affiliation>Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Houston, TX USA</affiliation>
    </creator>
    <creator>
      <creatorName>Heeg, Maximilian</creatorName>
      <givenName>Maximilian</givenName>
      <familyName>Heeg</familyName>
      <affiliation>Univ Freiburg, Med Ctr, Fac Med, Inst Immunodeficiency,Ctr Chron Immunodeficiency, Freiburg, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Rensing-Ehl, Anne</creatorName>
      <givenName>Anne</givenName>
      <familyName>Rensing-Ehl</familyName>
      <affiliation>Univ Freiburg, Med Ctr, Fac Med, Inst Immunodeficiency,Ctr Chron Immunodeficiency, Freiburg, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Neven, Benedicte</creatorName>
      <givenName>Benedicte</givenName>
      <familyName>Neven</familyName>
      <affiliation>Inst Imagine, INSERM, UMR 1163, Lab Immunogenet Pediat Autoimmune Dis, Paris, France</affiliation>
    </creator>
    <creator>
      <creatorName>Hadjadj, Jerome</creatorName>
      <givenName>Jerome</givenName>
      <familyName>Hadjadj</familyName>
      <affiliation>Inst Imagine, INSERM, UMR 1163, Lab Immunogenet Pediat Autoimmune Dis, Paris, France</affiliation>
    </creator>
    <creator>
      <creatorName>Hambleton, Sophie</creatorName>
      <givenName>Sophie</givenName>
      <familyName>Hambleton</familyName>
      <affiliation>Newcastle Univ, Translat &amp; Clin Res Inst, Newcastle Upon Tyne, Tyne &amp; Wear, England</affiliation>
    </creator>
    <creator>
      <creatorName>Leahy, Timothy Ronan</creatorName>
      <givenName>Timothy Ronan</givenName>
      <familyName>Leahy</familyName>
      <affiliation>Childrens Hlth Ireland Crumlin, Dublin, Ireland</affiliation>
    </creator>
    <creator>
      <creatorName>Meesilpavikai, Kornvalee</creatorName>
      <givenName>Kornvalee</givenName>
      <familyName>Meesilpavikai</familyName>
    </creator>
    <creator>
      <creatorName>Cunningham-Rundles, Charlotte</creatorName>
      <givenName>Charlotte</givenName>
      <familyName>Cunningham-Rundles</familyName>
      <affiliation>Mt Sinai Sch Med, Dept Med, New York, NY USA</affiliation>
    </creator>
    <creator>
      <creatorName>Dutmer, Cullen M.</creatorName>
      <givenName>Cullen M.</givenName>
      <familyName>Dutmer</familyName>
      <affiliation>Univ Colorado, Sch Med, Childrens Hosp Colorado, Aurora, CO USA</affiliation>
    </creator>
    <creator>
      <creatorName>Sharapova, Svetlana O.</creatorName>
      <givenName>Svetlana O.</givenName>
      <familyName>Sharapova</familyName>
      <affiliation>Belarusian Res Ctr Pediat Oncol Hematol &amp; Immunol, Minsk, BELARUS</affiliation>
    </creator>
    <creator>
      <creatorName>Taskinen, Mervi</creatorName>
      <givenName>Mervi</givenName>
      <familyName>Taskinen</familyName>
    </creator>
    <creator>
      <creatorName>Chua, Ignatius</creatorName>
      <givenName>Ignatius</givenName>
      <familyName>Chua</familyName>
    </creator>
  </creators>
  <titles>
    <title>Monogenic Early-Onset Lymphoproliferation And Autoimmunity: Natural History Of Stat3 Gain-Of-Function Syndrome</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2023</publicationYear>
  <dates>
    <date dateType="Issued">2023-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/269722</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1016/j.jaci.2022.09.002</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">&lt;p&gt;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.)&lt;/p&gt;</description>
  </descriptions>
</resource>