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- Title
Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency.
- Authors
Chong-Neto, Herberto Jose; Segundo, Gesmar Rodrigues Silva; Bandeira, Márcia; Chong-Silva, Débora Carla; Rosário, Cristine Secco; Riedi, Carlos A.; Hershfield, Michael S.; Ochs, Hans; Torgerson, Troy; Rosário, Nelson Augusto
- Abstract
Subsequently, case reports suggested that DADA2 patients may present with a highly variable clinical phenotype and that many symptoms are responsive to therapy with anti-tumor necrosis factor agents, including cytopenia and bone marrow failure [[4]-[7]]. While human ADA1 and ADA2 show partial structural homology, they are structurally and probably functionally distinct, since the accumulation of deoxyadenosine nucleotides is absent in erythrocytes from patients with ADA2 deficiency [[2]]. The patient's phenotype reported here presented the core symptoms previously found in DADA2 patients. Previously, other authors have described a DADA2 patients with the same I ADA2 i mutation found in our case; however, as a part of compound heterozygous mutations and in silico analysis, the mutation described in these case reports indicated that the nucleotide exchange could impair splicing [[9]].
- Subjects
AGAMMAGLOBULINEMIA; GENETIC engineering; HEMATOPOIETIC stem cell transplantation
- Publication
Journal of Clinical Immunology, 2019, Vol 39, Issue 8, p842
- ISSN
0271-9142
- Publication type
Letter
- DOI
10.1007/s10875-019-00697-2