Extreme Phenotypic Variation in Siblings with Identical Homozygous Mutations Causing ADA2 Deficiency: A Case Series.
作者信息
Aksu Muhammed D, Özen Seza, Aksu Tekin, Gürel Ayşe, Çetinkaya Arda, Ünal Şule
机构信息
Hacettepe University Faculty of Medicine, Ankara, Türkiye
Hacettepe University Cancer Institute, Department of Basic Oncology, Ankara, Türkiye
出版信息
Turk J Haematol. 2025 Feb 28;42(1):61-64. doi: 10.4274/tjh.galenos.2025.2024.0373. Epub 2025 Jan 7.
Abstract
摘要
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本文引用的文献
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Deficiency of Adenosine Deaminase 2.
Turk J Haematol. 2024 Aug 28;41(3):133-140. doi: 10.4274/tjh.galenos.2024.2024.0265. Epub 2024 Aug 9.
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Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.
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A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.
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ADA2 deficiency: Clonal lymphoproliferation in a subset of patients.
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Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
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Early-onset stroke and vasculopathy associated with mutations in ADA2.
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