1 Ocak 2023 Dergi makalesi Açık Erişim

Yakici, Nalan; Kreins, Alexandra Y.; Catak, Mehmet Cihangir; Babayeva, Royala; Erman, Baran; Kenney, Heather; Gungor, Hatice Eke; Cea, Pablo A.; Kawai, Tomoki; Bosticardo, Marita; Delmonte, Ottavia Maria; Adams, Stuart; Fan, Yu-Tong; Pala, Francesca; Turkyilmaz, Ayberk; Howley, Evey; Worth, Austen; Kot, Hakan; Sefer, Asena Pinar; Kara, Altan

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/265012</identifier>
  <creators>
    <creator>
      <creatorName>Yakici, Nalan</creatorName>
      <givenName>Nalan</givenName>
      <familyName>Yakici</familyName>
      <affiliation>Karadeniz Tech Univ, Fac Med, Dept Pediat, Div Pediat Allergy &amp; Immunol, Trabzon, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Kreins, Alexandra Y.</creatorName>
      <givenName>Alexandra Y.</givenName>
      <familyName>Kreins</familyName>
    </creator>
    <creator>
      <creatorName>Catak, Mehmet Cihangir</creatorName>
      <givenName>Mehmet Cihangir</givenName>
      <familyName>Catak</familyName>
    </creator>
    <creator>
      <creatorName>Babayeva, Royala</creatorName>
      <givenName>Royala</givenName>
      <familyName>Babayeva</familyName>
    </creator>
    <creator>
      <creatorName>Erman, Baran</creatorName>
      <givenName>Baran</givenName>
      <familyName>Erman</familyName>
    </creator>
    <creator>
      <creatorName>Kenney, Heather</creatorName>
      <givenName>Heather</givenName>
      <familyName>Kenney</familyName>
      <affiliation>Natl Inst Allergy &amp; Infect Dis NIAID, Immune Deficiency Genet Sect, Lab Clin Immunol &amp; Microbiol LCIM, NIH, Bethesda, MD USA</affiliation>
    </creator>
    <creator>
      <creatorName>Gungor, Hatice Eke</creatorName>
      <givenName>Hatice Eke</givenName>
      <familyName>Gungor</familyName>
      <affiliation>Erciyes City Hosp, Div Pediat Allergy &amp; Immunol, Kayseri, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Cea, Pablo A.</creatorName>
      <givenName>Pablo A.</givenName>
      <familyName>Cea</familyName>
      <affiliation>Heinrich Heine Univ, Inst Pharmaceut &amp; Med Chem, Dusseldorf, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Kawai, Tomoki</creatorName>
      <givenName>Tomoki</givenName>
      <familyName>Kawai</familyName>
      <affiliation>Shizuoka Childrens Hosp, Dept Allergy &amp; Clin Immunol, Shizuoka, Japan</affiliation>
    </creator>
    <creator>
      <creatorName>Bosticardo, Marita</creatorName>
      <givenName>Marita</givenName>
      <familyName>Bosticardo</familyName>
      <affiliation>Natl Inst Allergy &amp; Infect Dis NIAID, Immune Deficiency Genet Sect, Lab Clin Immunol &amp; Microbiol LCIM, NIH, Bethesda, MD USA</affiliation>
    </creator>
    <creator>
      <creatorName>Delmonte, Ottavia Maria</creatorName>
      <givenName>Ottavia Maria</givenName>
      <familyName>Delmonte</familyName>
      <affiliation>Natl Inst Allergy &amp; Infect Dis NIAID, Immune Deficiency Genet Sect, Lab Clin Immunol &amp; Microbiol LCIM, NIH, Bethesda, MD USA</affiliation>
    </creator>
    <creator>
      <creatorName>Adams, Stuart</creatorName>
      <givenName>Stuart</givenName>
      <familyName>Adams</familyName>
      <affiliation>Great Ormond St Hosp Children NHS Fdn Trust, SIHMDS Haematol, London, England</affiliation>
    </creator>
    <creator>
      <creatorName>Fan, Yu-Tong</creatorName>
      <givenName>Yu-Tong</givenName>
      <familyName>Fan</familyName>
      <affiliation>UCL, Great Ormond St Inst Child Hlth, Infect Immun &amp; Inflammat Res &amp; Teaching Dept, London, England</affiliation>
    </creator>
    <creator>
      <creatorName>Pala, Francesca</creatorName>
      <givenName>Francesca</givenName>
      <familyName>Pala</familyName>
      <affiliation>Natl Inst Allergy &amp; Infect Dis NIAID, Immune Deficiency Genet Sect, Lab Clin Immunol &amp; Microbiol LCIM, NIH, Bethesda, MD USA</affiliation>
    </creator>
    <creator>
      <creatorName>Turkyilmaz, Ayberk</creatorName>
      <givenName>Ayberk</givenName>
      <familyName>Turkyilmaz</familyName>
      <affiliation>Karadeniz Tech Univ, Fac Med, Dept Med Genet, Trabzon, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Howley, Evey</creatorName>
      <givenName>Evey</givenName>
      <familyName>Howley</familyName>
      <affiliation>Great Ormond St Hosp Children NHS Fdn Trust, Dept Immunol &amp; Gene therapy, London, England</affiliation>
    </creator>
    <creator>
      <creatorName>Worth, Austen</creatorName>
      <givenName>Austen</givenName>
      <familyName>Worth</familyName>
      <affiliation>Great Ormond St Hosp Children NHS Fdn Trust, Dept Immunol &amp; Gene therapy, London, England</affiliation>
    </creator>
    <creator>
      <creatorName>Kot, Hakan</creatorName>
      <givenName>Hakan</givenName>
      <familyName>Kot</familyName>
    </creator>
    <creator>
      <creatorName>Sefer, Asena Pinar</creatorName>
      <givenName>Asena Pinar</givenName>
      <familyName>Sefer</familyName>
    </creator>
    <creator>
      <creatorName>Kara, Altan</creatorName>
      <givenName>Altan</givenName>
      <familyName>Kara</familyName>
      <affiliation>Gene Engn &amp; Biotechnol Inst, TUBITAK Marmara Res Ctr, Gebze, Turkiye</affiliation>
    </creator>
  </creators>
  <titles>
    <title>Expanding The Clinical And Immunological Phenotypes Of Pax1-Deficient Scid And Cid Patients</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/265012</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1016/j.clim.2023.109757</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;Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naive T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34+ cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsic defect. New overlapping features with DiGeorge syndrome included primary hypoparathyroidism (n = 5) and congenital heart defects (n = 2), in line with PAX1 expression during early embryogenesis. Our results highlight new features of PAX1 deficiency, which are relevant to improving early diagnosis and identifying patients requiring corrective treatment.&lt;/p&gt;</description>
  </descriptions>
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