Mehmet KILIÇ
(Fırat Üniversitesi, Tıp Fakültesi, Pediatri Anabilim Dalı, Alerji ve İmmünoloji Bilim Dalı, Elazığ, Türkiye)
Mehmet Hazar ÖZCAN
(Fırat Üniversitesi, Tıp Fakültesi, Pediatri Anabilim Dalı, Elazığ, Türkiye)
Erdal TAŞKIN
(Fırat Üniversitesi, Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Neonatoloji Anabilim Dalı, Elazığ, Türkiye)
Hakan YILDIRIM
(Fırat Üniversitesi, Tıp Fakültesi, Göz Hastalıkları Anabilim Dalı, Elazığ, Türkiye)
Aşkın ŞEN
(Fırat Üniversitesi, Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı, Elazığ, Türkiye)
Yıl: 2021Cilt: 19Sayı: 1ISSN: 1308-9234Sayfa Aralığı: 50 - 55İngilizce

37 0
Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report
Oculocutaneous albinism (OCA) is a disorder of melanin biosynthesis characterized by hypopigmentation of the skin, hair, and retinalpigment epithelium. We present the clinical and laboratory features of two siblings, born to consanguineous Turkish parents, who werediagnosed with autosomal recessive OCA type 7. We detected a homozygous mutation in the C10ORF11 gene (p.A23Rfs * 39) in bothpatients. Interestingly, the medical history revealed that both patients had suffered from recurrent respiratory tract infections since birth.The patients were investigated for suspected immunodeficiency and the results of the immune screening assays were normal. We believethese patients are noteworthy to report since presentation with infections has not been described in the prior descriptions of OCA type7. As of this current writing, infectious problems have stopped in one of our cases since the age of five and a half years.
Dergititle.paper.fact_presentationErişime Açık
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