Researcher:
Özcanlı, Adil

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Researcher

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Adil

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Özcanlı

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Özcanlı, Adil

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Now showing 1 - 3 of 3
  • Placeholder
    Publication
    Prevalence of hidradenitis suppurativa in a Turkish population: validation of a screening questionnaire in Istanbul, Turkey
    (Wiley, 2024) Danacı, Senem; Bouazzi, Dorra; Medianfar, Cecilia Egede; Christensen, Robin; Jemec, Gregor B. E.; Vural, Seçil; Başkurt, Defne; Özcanlı, Adil; Bozkurt, Elif Gökçen; Sarıoğlu, Sebile; Berrak, Yusuf Hüseyin; Başkan, Aylin; Yaylı, Savaş; School of Medicine
    N/A
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    Publication
    Overlapping inflammatory diseases in hidradenitis suppurativa patients and their families
    (Wiley, 2023) Gülbezer, Elif Er; Özcanlı, Adil; Başkurt, Defne; Vural, Seçil; School of Medicine
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    Publication
    Successful infliximab treatment in siblings with netherton syndrome: unveiling a novel SPINK5 gene variant and literature review
    (Wiley, 2024) Salıcı, Nazmiye Selin; Özcanlı, Adil; Rasulova, Günel; Başak, Ayşe Nazlı; Tekgül, Şeyma; Vural, Seçil; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Graduate School of Sciences and Engineering; Koç University Hospital
    Netherton syndrome (NS) is a rare autosomal recessive genodermatosis. In this article, we present two siblings with NS who harbour a novel variant in the SPINK5 gene and were treated with infliximab infusions. Both patients exhibited the characteristic clinical triad of NS, and their whole exome sequencing analysis revealed a homozygous variant, c.1820+53G>A, in the SPINK5 gene. Notably, this is the first documented instance of homozygosity for this particular variant. Despite the absence of a specific treatment, both patients achieved total clearance of the skin lesions, and a significant decrease in total IgE levels was documented.