Yıl: 2021 Cilt: 19 Sayı: 1 Sayfa Aralığı: 50 - 55 Metin Dili: İngilizce DOI: 10.21911/aai.587 İndeks Tarihi: 05-10-2021

Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report

Öz:
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.
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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APA KILIC M, Özcan M, TASKIN E, YILDIRIM H, Sen A (2021). Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report. , 50 - 55. 10.21911/aai.587
Chicago KILIC Mehmet,Özcan Mehmet Hazar,TASKIN Erdal,YILDIRIM HAKAN,Sen Askin Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report. (2021): 50 - 55. 10.21911/aai.587
MLA KILIC Mehmet,Özcan Mehmet Hazar,TASKIN Erdal,YILDIRIM HAKAN,Sen Askin Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report. , 2021, ss.50 - 55. 10.21911/aai.587
AMA KILIC M,Özcan M,TASKIN E,YILDIRIM H,Sen A Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report. . 2021; 50 - 55. 10.21911/aai.587
Vancouver KILIC M,Özcan M,TASKIN E,YILDIRIM H,Sen A Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report. . 2021; 50 - 55. 10.21911/aai.587
IEEE KILIC M,Özcan M,TASKIN E,YILDIRIM H,Sen A "Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report." , ss.50 - 55, 2021. 10.21911/aai.587
ISNAD KILIC, Mehmet vd. "Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report". (2021), 50-55. https://doi.org/10.21911/aai.587
APA KILIC M, Özcan M, TASKIN E, YILDIRIM H, Sen A (2021). Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report. Astım Allerji İmmünoloji, 19(1), 50 - 55. 10.21911/aai.587
Chicago KILIC Mehmet,Özcan Mehmet Hazar,TASKIN Erdal,YILDIRIM HAKAN,Sen Askin Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report. Astım Allerji İmmünoloji 19, no.1 (2021): 50 - 55. 10.21911/aai.587
MLA KILIC Mehmet,Özcan Mehmet Hazar,TASKIN Erdal,YILDIRIM HAKAN,Sen Askin Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report. Astım Allerji İmmünoloji, vol.19, no.1, 2021, ss.50 - 55. 10.21911/aai.587
AMA KILIC M,Özcan M,TASKIN E,YILDIRIM H,Sen A Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report. Astım Allerji İmmünoloji. 2021; 19(1): 50 - 55. 10.21911/aai.587
Vancouver KILIC M,Özcan M,TASKIN E,YILDIRIM H,Sen A Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report. Astım Allerji İmmünoloji. 2021; 19(1): 50 - 55. 10.21911/aai.587
IEEE KILIC M,Özcan M,TASKIN E,YILDIRIM H,Sen A "Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report." Astım Allerji İmmünoloji, 19, ss.50 - 55, 2021. 10.21911/aai.587
ISNAD KILIC, Mehmet vd. "Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report". Astım Allerji İmmünoloji 19/1 (2021), 50-55. https://doi.org/10.21911/aai.587