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Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis

Kasap, Nurhan; Kara, Altan; Celik, Velat; Eltan, Sevgi Bilgic; Haci, Idil Akay; Kose, Hulya; Aygun, Ayse; Akkelle, Emre; Yakici, Nalan; Guner, Sukru Nail; Reisli, Ismail; Keles, Sevgi; Cekic, Sukru; Kilic, Sara Sebnem; Karaca, Neslihan Edeer; Gulez, Nesrin; Genel, Ferah; Ozen, Ahmet; Yucelten, Ayse Deniz; Karakoc-Aydiner, Elif


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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/265136</identifier>
  <creators>
    <creator>
      <creatorName>Kasap, Nurhan</creatorName>
      <givenName>Nurhan</givenName>
      <familyName>Kasap</familyName>
    </creator>
    <creator>
      <creatorName>Kara, Altan</creatorName>
      <givenName>Altan</givenName>
      <familyName>Kara</familyName>
      <affiliation>TUBITAK Marmara Res Ctr, Gene Engn &amp; Biotechnol Inst, Gebze, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Celik, Velat</creatorName>
      <givenName>Velat</givenName>
      <familyName>Celik</familyName>
      <affiliation>Trakya Univ, Fac Med Pediat Allergy &amp; Immunol, Edirne, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Eltan, Sevgi Bilgic</creatorName>
      <givenName>Sevgi Bilgic</givenName>
      <familyName>Eltan</familyName>
    </creator>
    <creator>
      <creatorName>Haci, Idil Akay</creatorName>
      <givenName>Idil Akay</givenName>
      <familyName>Haci</familyName>
      <affiliation>Dr Behcet Uz Childrens Hosp, Dept Pediat Allergy &amp; Immunol, Izmir, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Kose, Hulya</creatorName>
      <givenName>Hulya</givenName>
      <familyName>Kose</familyName>
      <affiliation>Uludag Univ, Med Fac, Dept Pediat Immunol &amp; Rheumatol, Bursa, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Aygun, Ayse</creatorName>
      <givenName>Ayse</givenName>
      <familyName>Aygun</familyName>
      <affiliation>Ege Univ, Fac Med, Dept Pediat, Div Immunol, Izmir, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Akkelle, Emre</creatorName>
      <givenName>Emre</givenName>
      <familyName>Akkelle</familyName>
      <affiliation>Sancaktepe Training &amp; Res Hosp, Pediat Allergy &amp; Immunol Dept, Istanbul, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Yakici, Nalan</creatorName>
      <givenName>Nalan</givenName>
      <familyName>Yakici</familyName>
      <affiliation>Karadeniz Tech Univ, Fac Med, Pediat Allergy &amp; Immunol Dept, Trabzon, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Guner, Sukru Nail</creatorName>
      <givenName>Sukru Nail</givenName>
      <familyName>Guner</familyName>
      <affiliation>Necmettin Erbakan Univ, Meram Med Fac, Div Pediat Allergy &amp; Immunol, Konya, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Reisli, Ismail</creatorName>
      <givenName>Ismail</givenName>
      <familyName>Reisli</familyName>
      <affiliation>Necmettin Erbakan Univ, Meram Med Fac, Div Pediat Allergy &amp; Immunol, Konya, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Keles, Sevgi</creatorName>
      <givenName>Sevgi</givenName>
      <familyName>Keles</familyName>
      <affiliation>Necmettin Erbakan Univ, Meram Med Fac, Div Pediat Allergy &amp; Immunol, Konya, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Cekic, Sukru</creatorName>
      <givenName>Sukru</givenName>
      <familyName>Cekic</familyName>
      <affiliation>Uludag Univ, Med Fac, Dept Pediat Immunol &amp; Rheumatol, Bursa, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Kilic, Sara Sebnem</creatorName>
      <givenName>Sara Sebnem</givenName>
      <familyName>Kilic</familyName>
      <affiliation>Uludag Univ, Med Fac, Dept Pediat Immunol &amp; Rheumatol, Bursa, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Karaca, Neslihan Edeer</creatorName>
      <givenName>Neslihan Edeer</givenName>
      <familyName>Karaca</familyName>
      <affiliation>Ege Univ, Fac Med, Dept Pediat, Div Immunol, Izmir, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Gulez, Nesrin</creatorName>
      <givenName>Nesrin</givenName>
      <familyName>Gulez</familyName>
      <affiliation>Dr Behcet Uz Childrens Hosp, Dept Pediat Allergy &amp; Immunol, Izmir, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Genel, Ferah</creatorName>
      <givenName>Ferah</givenName>
      <familyName>Genel</familyName>
      <affiliation>Dr Behcet Uz Childrens Hosp, Dept Pediat Allergy &amp; Immunol, Izmir, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Ozen, Ahmet</creatorName>
      <givenName>Ahmet</givenName>
      <familyName>Ozen</familyName>
    </creator>
    <creator>
      <creatorName>Yucelten, Ayse Deniz</creatorName>
      <givenName>Ayse Deniz</givenName>
      <familyName>Yucelten</familyName>
      <affiliation>Marmara Univ, Fac Med, Dept Dermatol, Istanbul, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Karakoc-Aydiner, Elif</creatorName>
      <givenName>Elif</givenName>
      <familyName>Karakoc-Aydiner</familyName>
    </creator>
  </creators>
  <titles>
    <title>Atypical Localization Of Eczema Discriminates Dock8 Or Stat3 Deficiencies From Atopic Dermatitis</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/265136</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1007/s10875-023-01554-z</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;PurposeAutosomal recessive dedicator of cytokinesis 8 (DOCK8(-/-)) and autosomal dominant signal transducer and activator of transcription 3 (STAT3(-/+)) deficiencies are inborn errors of immunity (IEI) disorders present with the classic features of eczema and create a dilemma during differentiation from atopic dermatitis (AD). Therefore, an appropriate approach is required for eczema to diagnose DOCK8(-/-) and STAT3(-/+) early. Here, we described a set of clinical and immunological variables, including atypical AD localizations and lymphocyte subsets, to differentiate DOCK8(-/-) or STAT3(-/+) from AD.MethodsThis multicenter study involved 100 patients with DOCK8(-/-) and STAT3(-/+) and moderate/severe AD. We recruited disease manifestations, including detailed localizations of eczema, infections, and allergy. Principle component analysis (PCA) was used to discriminate DOCK8(-/-) or STAT3(-/+) from AD.ResultsThere were 43 patients with DOCK8(-/-), 23 with STAT3(-/+), and 34 with AD. Pneumonia, severe infections, mucocutaneous candidiasis, and skin abscesses were commonly observed in DOCK8 and STAT3 deficiencies. Atypical skin involvement with neonatal rash, retro auricular, axillary, sacral, and genital eczema discriminate DOCK8(-/-) and STAT3(-/+) from AD with high specificity ranges between 73.5 and 94.1% and positive predictive index ranges between 55 and 93.1%. Together with using absolute numbers of CD3(+), CD4(+), and CD8(+) T cells, the combined clinical and laboratory features showed perfect differentiation between DOCK8(-/-) or STAT3(-/+) and AD via PCA.ConclusionsThe described features can be easily implemented by physicians providing early diagnosis of DOCK8 and STAT3 deficiencies.&lt;/p&gt;</description>
  </descriptions>
</resource>
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