Project description:In this study, we investigated somatic mutations of CD4+ and CD8+ T cells in patients with immune-mediated aplastic anemia (AA). To understand the role of mutations, we performed single-cell level analysis of 6 longitudinal samples of 2 AA patients carrying STAT3 or KRAS and other mutations in CD8+ T cells. The analysis was performed using V(D)J and 5' gene expression platform (10X Genomics). STAT3 mutated clone was clearly distinguishable from other CD8+ T cells and showed a cytotoxic phenotype, attenuated by successful immunosuppressive treatment. Our results suggest that somatic mutations in T cells can alter T cell phenotype warranting further investigation of their role in the pathogenesis of immune-mediated AA.

2021-03-24 | E-MTAB-9969 | biostudies-arrayexpress

Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.

Project description: Not available

| S-EPMC8102188 | biostudies-literature

Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study.

Project description: Not available

| S-EPMC6886407 | biostudies-literature

Aplastic anemia

Project description:Clonal hematopoiesis was investigated in patients with aplastic anemia using next-generation sequencing and single-nucleotide polymorphism (SNP) array-based karyotyping.

| EGAS00001001153 | EGA

aplastic anemia

Project description:Data Access Committee EGAC00001000311

| EGAC00001000311 | EGA

Diagnosis and Treatment of Aplastic Anemia.

Project description: Not available

| S-EPMC5804354 | biostudies-other

Aplastic anemia: immunosuppressive therapy in 2010.

Project description: Not available

| S-EPMC3206528 | biostudies-literature