Extreme Phenotypic Variation in Siblings with Identical Homozygous Mutations Causing ADA2 Deficiency: A Case Series

Turk J Haematol. 2025 Feb 28;42(1):61-64. doi: 10.4274/tjh.galenos.2025.2024.0373. Epub 2025 Jan 7.

Muhammed D Aksu^{1

2}, Seza Özen³, Tekin Aksu⁴, Ayşe Gürel⁵, Arda Çetinkaya^{5

6

7}, Şule Ünal^{4

7}

¹ Hacettepe University Faculty of Medicine, Ankara, Türkiye
² Hacettepe University Cancer Institute, Department of Basic Oncology, Ankara, Türkiye
³ Hacettepe University Faculty of Medicine, Department of Pediatric Rheumatology, Ankara, Türkiye
⁴ Hacettepe University Faculty of Medicine, Department of Pediatric Hematology, Ankara, Türkiye
⁵ Hacettepe University Faculty of Medicine, Department of Medical Genetics, Ankara, Türkiye
⁶ Hacettepe University Center for Genomics and Rare Diseases, Ankara, Türkiye
⁷ Hacettepe University Research Center for Fanconi Anemia and Other Inherited BMF Syndromes, Ankara, Türkiye

No abstract available

Keywords: Child; DADA2; Vasculitis; Deficiency of adenosine deaminase 2; Diamond-Blackfan anemia; Polyarteritis nodosa.