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Extreme Phenotypic Variation in Siblings with Identical Homozygous Mutations Causing ADA2 Deficiency: A Case Series.
Turk J Haematol
January 2025
Hacettepe University, Faculty of Medicine, Department of Pediatric Hematology, Ankara, Türkiye.
All-in-one gene therapy alternative for DBAS.
Cell Stem Cell
January 2025
Division of Hematopoietic Innovative Therapies, CIEMAT, Madrid, Spain; Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Madrid, Spain; Advanced Therapies Unit, IIS-Fundación Jimenez Diaz (IIS-FJD, UAM), 28040 Madrid, Spain. Electronic address:
Diamond-Blackfan anemia syndrome is a ribosomopathy classified among the bone marrow failure syndromes. This disease exhibits significant heterogeneity, with up to 24 genetic variants identified to date. Voit et al.
View Article and Find Full Text PDFFamilial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia.
Am J Med Genet A
December 2024
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%-50% of patients. This phenotypic variability is partially explained by genotype-phenotype correlations, with several ribosomal protein genes implicated in this disorder. Most cases are due to de novo variants, but familial occurrences highlight variable expressivity and reduced penetrance.
View Article and Find Full Text PDFDiagnosis of Diamond-Blackfan anemia in adulthood: case series and review of the literature.
Orphanet J Rare Dis
December 2024
Hematology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Article Synopsis
- Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome primarily diagnosed in children, characterized by severe anemia and potential congenital defects.
- Diagnosis of DBA involves identifying variants in ribosomal protein genes, but adults can also be diagnosed, sometimes years after being misclassified with other conditions like pure red cell aplasia.
- The article discusses three adult cases of DBA misdiagnosed as PRCA and reviews 16 additional cases, while also suggesting possible treatment options for affected individuals.
Preclinical development of lentiviral vector gene therapy for Diamond-Blackfan anemia syndrome.
Mol Ther
December 2024
Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA. Electronic address:
Article Synopsis
- Diamond-Blackfan anemia syndrome (DBAS) is a genetic disorder leading to bone marrow failure due to issues with ribosomal protein genes, mainly RPS19.
- The researchers created an advanced lentiviral vector called SJEFS-S19 aimed at gene therapy for DBAS, addressing challenges in obtaining patient stem cells.
- Preclinical tests showed that SJEFS-S19 can correct defects in blood cell production and safely generate a healthy mix of blood cell types in mice, indicating its potential for treating DBAS.
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