1 Ocak 2021 Dergi makalesi Açık Erişim

Cagdas, Deniz; Mayr, Daniel; Baris, Safa; Worley, Lisa; Langley, David B.; Metin, Ayse; Aytekin, Elif Soyak; Atan, Raziye; Kasap, Nurhan; Bal, Sevgi Koestel; Dmytrus, Jasmin; Heredia, Raul Jimenez; Karasu, Gulsun; Torun, Selda Hancerli; Toyran, Muge; Karakoc-Aydiner, Elif; Christ, Daniel; Kuskonmaz, Baris; Uckan-Cetinkaya, Duygu; Uner, Aysegul; Uner, Aysegul

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/238594</identifier>
  <creators>
    <creator>
      <creatorName>Cagdas, Deniz</creatorName>
      <givenName>Deniz</givenName>
      <familyName>Cagdas</familyName>
    </creator>
    <creator>
      <creatorName>Mayr, Daniel</creatorName>
      <givenName>Daniel</givenName>
      <familyName>Mayr</familyName>
    </creator>
    <creator>
      <creatorName>Baris, Safa</creatorName>
      <givenName>Safa</givenName>
      <familyName>Baris</familyName>
    </creator>
    <creator>
      <creatorName>Worley, Lisa</creatorName>
      <givenName>Lisa</givenName>
      <familyName>Worley</familyName>
    </creator>
    <creator>
      <creatorName>Langley, David B.</creatorName>
      <givenName>David B.</givenName>
      <familyName>Langley</familyName>
      <affiliation>UNSW, St Vincents Clin Sch, Fac Med, Sydney, NSW, Australia</affiliation>
    </creator>
    <creator>
      <creatorName>Metin, Ayse</creatorName>
      <givenName>Ayse</givenName>
      <familyName>Metin</familyName>
      <affiliation>Univ Hlth Sci, Ankara City Hosp, Dept Pediat Immunol, Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Aytekin, Elif Soyak</creatorName>
      <givenName>Elif Soyak</givenName>
      <familyName>Aytekin</familyName>
      <affiliation>Hacettepe Univ, Med Fac, Ihsan Dogramaci Childrens Hosp, Div Pediat Immunol,Dept Pediat, Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Atan, Raziye</creatorName>
      <givenName>Raziye</givenName>
      <familyName>Atan</familyName>
      <affiliation>Hacettepe Univ, Dept Pediat, Med Fac, TR-1031 Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Kasap, Nurhan</creatorName>
      <givenName>Nurhan</givenName>
      <familyName>Kasap</familyName>
    </creator>
    <creator>
      <creatorName>Bal, Sevgi Koestel</creatorName>
      <givenName>Sevgi Koestel</givenName>
      <familyName>Bal</familyName>
    </creator>
    <creator>
      <creatorName>Dmytrus, Jasmin</creatorName>
      <givenName>Jasmin</givenName>
      <familyName>Dmytrus</familyName>
    </creator>
    <creator>
      <creatorName>Heredia, Raul Jimenez</creatorName>
      <givenName>Raul Jimenez</givenName>
      <familyName>Heredia</familyName>
    </creator>
    <creator>
      <creatorName>Karasu, Gulsun</creatorName>
      <givenName>Gulsun</givenName>
      <familyName>Karasu</familyName>
      <affiliation>Istinye Univ, Pediat Stem Cell Transplantat Unit, Goztepe Medicalpark Hosp, Sch Med, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Torun, Selda Hancerli</creatorName>
      <givenName>Selda Hancerli</givenName>
      <familyName>Torun</familyName>
      <affiliation>Istanbul Univ, Istanbul Med Fac, Pediat Infect Dis, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Toyran, Muge</creatorName>
      <givenName>Muge</givenName>
      <familyName>Toyran</familyName>
      <affiliation>Univ Hlth Sci, Ankara City Hosp, Dept Pediat Immunol, Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Karakoc-Aydiner, Elif</creatorName>
      <givenName>Elif</givenName>
      <familyName>Karakoc-Aydiner</familyName>
    </creator>
    <creator>
      <creatorName>Christ, Daniel</creatorName>
      <givenName>Daniel</givenName>
      <familyName>Christ</familyName>
    </creator>
    <creator>
      <creatorName>Kuskonmaz, Baris</creatorName>
      <givenName>Baris</givenName>
      <familyName>Kuskonmaz</familyName>
      <affiliation>Hacettepe Univ, Div Pediat Hematol, Dept Pediat, Med Sch, Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Uckan-Cetinkaya, Duygu</creatorName>
      <givenName>Duygu</givenName>
      <familyName>Uckan-Cetinkaya</familyName>
      <affiliation>Hacettepe Univ, Div Pediat Hematol, Dept Pediat, Med Sch, Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Uner, Aysegul</creatorName>
      <givenName>Aysegul</givenName>
      <familyName>Uner</familyName>
      <affiliation>Hacettepe Univ, Dept Pathol, Med Sch, Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Uner, Aysegul</creatorName>
      <givenName>Aysegul</givenName>
      <familyName>Uner</familyName>
      <affiliation>Hacettepe Univ, Dept Pathol, Med Sch, Ankara, Turkey</affiliation>
    </creator>
  </creators>
  <titles>
    <title>Genomic Spectrum And Phenotypic Heterogeneity Of Human Il-21 Receptor Deficiency</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2021</publicationYear>
  <dates>
    <date dateType="Issued">2021-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/238594</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1007/s10875-021-01031-5</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">Biallelic inactivating mutations in IL21R causes a combined immunodeficiency that is often complicated by cryptosporidium infections. While eight IL-21R-deficient patients have been reported previously, the natural course, immune characteristics of disease, and response to hematopoietic stem cell transplantation (HSCT) remain to be comprehensively examined. In our study, we have collected clinical histories of 13 patients with IL-21R deficiency from eight families across seven centers worldwide, including five novel patients identified by exome or NGS panel sequencing. Eight unique mutations in IL21R were identified in these patients, including two novel mutations. Median age at disease onset was 2.5 years (0.5-7 years). The main clinical manifestations were recurrent bacterial (84.6%), fungal (46.2%), and viral (38.5%) infections; cryptosporidiosis-associated cholangitis (46.2%); and asthma (23.1%). Inflammatory skin diseases (15.3%) and recurrent anaphylaxis (7.9%) constitute novel phenotypes of this combined immunodeficiency. Most patients exhibited hypogammaglobulinemia and reduced proportions of memory B cells, circulating T follicular helper cells, MAIT cells and terminally differentiated NK cells. However, IgE levels were elevated in 50% of IL-21R-deficient patients. Overall survival following HSCT (6 patients, mean follow-up 1.8 year) was 33.3%, with pre-existing organ damage constituting a negative prognostic factor. Mortality of non-transplanted patients (n = 7) was 57.1%. Our detailed analysis of the largest cohort of IL-21R-deficient patients to date provides in-depth clinical, immunological and immunophenotypic features of these patients, thereby establishing critical non-redundant functions of IL-21/IL-21R signaling in lymphocyte differentiation, humoral immunity and host defense against infection, and mechanisms of disease pathogenesis due to IL-21R deficiency. Outcome following HSCT depends on prior chronic infections and organ damage, which should thus be considered as early as possible following molecular diagnosis.</description>
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