VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.

The identification of Von Hippel-Lindau (VHL) mosaic mutations by conventional Sanger sequencing requires a labour-intensive enrichment step, thus explaining that mosaicism occurrence is underestimated in patients. Nowadays, it is possible to detect mutation in cell sub-populations by next-generation sequencing (NGS). Here, we described a diagnosis strategy using NGS with high coverage in a series of eight patients who were negative for a VHL abnormality by Sanger sequencing and deletion search.

Comparative analysis of naïve and memory CD4+ and CD8+ T-cell subsets in bone marrow and G-CSF-mobilized peripheral blood stem cell allografts: impact of donor characteristics.

Objective: Donor T cells expressing lymph node homing receptors are the foremost initiators of acute graft-vs-host disease (aGVHD), and a high proportion of CD4(+)CCR7(+) T cells in human leukocyte antigen-matched allografts has been shown to confer a high risk of aGVHD without interfering in other outcomes.

Methods: Naïve, central memory (T(CM)), effector memory (T(EM)), and terminally differentiated effector memory (T(TD)) subsets, further subdivided by CD28 expression, were compared in 52 bone marrow and 37 granulocyte colony-stimulating factor-mobilized peripheral blood harvests.

Results: CCR7(+) cells (naïve and T(CM)) predominated in the CD4(+) population, whereas CD8(+) memory cells were chiefly CCR7(neg) in the grafts.

Highly focused clonal composition of CD8(+) CD28(neg) T cells in aqueous humor of fuchs heterochromic cyclitis.

Fuchs heterochromic cyclitis (FHC) is characterized by a predominant CD8(+) T cell subset infiltrating the anterior chamber, but the clonal composition of these T cells is unknown. In the present study, T cell repertoire diversity of the accumulating T cells was analyzed to investigate if a high degree of restriction could indicate antigen-driven immune response. Aqueous humor (AH) and peripheral blood cells were collected in two patients with FHC.