Lymphadenopathy driven by TCR-V8V1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome.

FAS-dependent apoptosis in V1 T cells makes the latter possible culprits for the lymphadenopathy observed in patients with mutations.Rapamycin and methylprednisolone resistance should prompt clinicians to look for V1 T cell proliferation in ALPS-FAS patients.

High resolution array in the clinical approach to chromosomal phenotypes.

Array genomic hybridization (AGH) has recently been implemented as a diagnostic tool for the detection of submicroscopic copy number variants (CNVs) in patients with developmental disorders. However, there is no consensus regarding the choice of the platform, the minimal resolution needed and systematic interpretation of CNVs. We report our experience in the clinical diagnostic use of high resolution AGH up to 100 kb on 131 patients with chromosomal phenotypes but previously normal karyotype.