E-ISSN: 1308-5263
Turk J Hematol. Ahead of Print: TJH-78380 | DOI: 10.4274/tjh.galenos.2025.2024.0373
2Hacettepe University, Faculty of Medicine, Department of Pediatric Rheumatology, Ankara, Türkiye
3Hacettepe University, Faculty of Medicine, Department of Pediatric Hematology, Ankara, Türkiye
4Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Türkiye
5Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Türkiye; Hacettepe University, Center for Genomics and Rare Diseases, Ankara, Türkiye; Hacettepe University, Research Center for Fanconi Anemia and Other Inherited BMF Syndromes, Ankara, Türkiye
6Hacettepe University, Faculty of Medicine, Department of Pediatric Hematology, Ankara, Türkiye; Hacettepe University, Research Center for Fanconi Anemia and Other Inherited BMF Syndromes, Ankara, Türkiye
Keywords: Deficiency of Adenosine Deaminase 2, DADA2, Vasculitis, Diamond-Blackfan Anemia, Child, Polyarteritis Nodosa
2Hacettepe University, Faculty of Medicine, Department of Pediatric Rheumatology, Ankara, Türkiye
3Hacettepe University, Faculty of Medicine, Department of Pediatric Hematology, Ankara, Türkiye
4Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Türkiye
5Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Türkiye; Hacettepe University, Center for Genomics and Rare Diseases, Ankara, Türkiye; Hacettepe University, Research Center for Fanconi Anemia and Other Inherited BMF Syndromes, Ankara, Türkiye
6Hacettepe University, Faculty of Medicine, Department of Pediatric Hematology, Ankara, Türkiye; Hacettepe University, Research Center for Fanconi Anemia and Other Inherited BMF Syndromes, Ankara, Türkiye
Anahtar Kelimeler: Deficiency of Adenosine Deaminase 2, DADA2, Vasculitis, Diamond-Blackfan Anemia, Child, Polyarteritis Nodosa
Extreme Phenotypic Variation in Siblings with Identical Homozygous Mutations Causing ADA2 Deficiency: A Case Series
Muhammed D. Aksu1, Seza Özen2, Tekin Aksu3, Ayşe Gürel4, Arda Çetinkaya5, Şule Ünal61Hacettepe University, Faculty of Medicine, Ankara, Türkiye; Hacettepe University, Cancer Institute, Department of Basic Oncology, Ankara, Türkiye2Hacettepe University, Faculty of Medicine, Department of Pediatric Rheumatology, Ankara, Türkiye
3Hacettepe University, Faculty of Medicine, Department of Pediatric Hematology, Ankara, Türkiye
4Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Türkiye
5Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Türkiye; Hacettepe University, Center for Genomics and Rare Diseases, Ankara, Türkiye; Hacettepe University, Research Center for Fanconi Anemia and Other Inherited BMF Syndromes, Ankara, Türkiye
6Hacettepe University, Faculty of Medicine, Department of Pediatric Hematology, Ankara, Türkiye; Hacettepe University, Research Center for Fanconi Anemia and Other Inherited BMF Syndromes, Ankara, Türkiye
Keywords: Deficiency of Adenosine Deaminase 2, DADA2, Vasculitis, Diamond-Blackfan Anemia, Child, Polyarteritis Nodosa
ADA2 Eksikliğine Neden Olan Aynı Homozigot Mutasyonlara Sahip Kardeşlerde Aşırı Fenotipik Varyasyon: Olgu Serisi
Muhammed D. Aksu1, Seza Özen2, Tekin Aksu3, Ayşe Gürel4, Arda Çetinkaya5, Şule Ünal61Hacettepe University, Faculty of Medicine, Ankara, Türkiye; Hacettepe University, Cancer Institute, Department of Basic Oncology, Ankara, Türkiye2Hacettepe University, Faculty of Medicine, Department of Pediatric Rheumatology, Ankara, Türkiye
3Hacettepe University, Faculty of Medicine, Department of Pediatric Hematology, Ankara, Türkiye
4Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Türkiye
5Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Türkiye; Hacettepe University, Center for Genomics and Rare Diseases, Ankara, Türkiye; Hacettepe University, Research Center for Fanconi Anemia and Other Inherited BMF Syndromes, Ankara, Türkiye
6Hacettepe University, Faculty of Medicine, Department of Pediatric Hematology, Ankara, Türkiye; Hacettepe University, Research Center for Fanconi Anemia and Other Inherited BMF Syndromes, Ankara, Türkiye
Anahtar Kelimeler: Deficiency of Adenosine Deaminase 2, DADA2, Vasculitis, Diamond-Blackfan Anemia, Child, Polyarteritis Nodosa
Corresponding Author: Muhammed D. Aksu
Manuscript Language: English
Manuscript Language: English
Copyright © 2025 Turkish Journal of Hematology