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Primary immunodeficiency

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Works (7)

DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report

Journal of Pediatric Endocrinology and Metabolism
2025-02-17 | Journal article
DOI: 10.1515/jpem-2024-0510
Contributors: Deniz Yasar; Abdullah Sezer; Caner Aytekin; Gülin Karacan Küçükali; Beyhan Özkaya Dönmez; Aslıhan Araslı Yılmaz; İclal Okur; Behiye Sarıkaya Özdemir; Erdal Kurnaz; Melikşah Keskin et al.
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Drug-induced enterocolitis syndrome in children: report of two cases and a literature review

The Turkish Journal of Pediatrics
2025-02-17 | Journal article
DOI: 10.24953/turkjpediatr.2025.5461
Contributors: Murat Özer; Erhan Bahadır; Bahri Can Duran; Caner Aytekin; Serap Özmen
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Inherited IRAK-4 Deficiency in Acute Human Herpesvirus-6 Encephalitis

Journal of Clinical Immunology
2023-01 | Journal article
DOI: 10.1007/s10875-022-01369-4
Contributors: Zeynep Güneş Tepe; Yılmaz Yücehan Yazıcı; Umut Tank; Ladin Işık Köse; Murat Özer; Caner Aytekin; Serkan Belkaya
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Investigation of causative genetic defects in patients with primary immunodeficiency by next generation sequencing

Annals of Medical Research
2021 | Journal article
DOI: 10.5455/annalsmedres.2021.03.201
Contributors: Baran Erman; Tugba Arikoglu; Aylin Ozhan; Ali Demirhan; Nazan Tokmeci; Cigdem Aydogmus; Caner Aytekin
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Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings

Clinical Genetics
2021-09 | Journal article
DOI: 10.1111/cge.14002
Contributors: Yılmaz Yıldız; Can Koşukcu; Damla Aygün; Meltem Akçaboy; Fatma Zehra Öztek Çelebi; Yasemin Taşcı Yıldız; Gülseren Şahin; Caner Aytekin; Deniz Yüksel; İncilay Lay et al.
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Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Nature Medicine
2021-09 | Journal article
DOI: 10.1038/s41591-021-01388-5
Contributors: Masato Ogishi; Rui Yang; Caner Aytekin; David Langlais; Mathieu Bourgey; Taushif Khan; Fatima Al Ali; Mahbuba Rahman; Ottavia M. Delmonte; Maya Chrabieh et al.
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Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

Science Immunology
2018-12-14 | Journal article
DOI: 10.1126/sciimmunol.aau6759
Contributors: Rubén Martínez-Barricarte; Janet G. Markle; Cindy S. Ma; Elissa K. Deenick; Noé Ramírez-Alejo; Federico Mele; Daniela Latorre; Seyed Alireza Mahdaviani; Caner Aytekin; Davood Mansouri et al.
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