A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study.

The CYCS gene is highly evolutionarily conserved, with only a few pathogenic variants that cause thrombocytopenia-4 (THC4). Here, we report a novel CYCS variant NM_018947.6: c.

CD20 expression regulates CD37 levels in B-cell lymphoma - implications for immunotherapies.

Rituximab (RTX) plus chemotherapy (R-CHOP) applied as a first-line therapy for lymphoma leads to a relapse in approximately 40% of the patients. Therefore, novel approaches to treat aggressive lymphomas are being intensively investigated. Several RTX-resistant (RR) cell lines have been established as surrogate models to study resistance to R-CHOP.

Hypermethylation of CD19 promoter enables antigen-negative escape to CART-19 in vivo and in vitro.

Background: Anti-CD19 chimeric antigen receptor T cells (CART-19) frequently induce remissions in hemato-oncological patients with recurred and/or refractory B-cell tumors. However, malignant cells sometimes escape the immunotherapeutic targeting by gene mutations, alternative splicing or lineage switch, commonly causing lack of CD19 expression on the surface of neoplastic cells. We assumed that, in addition to the known mechanisms, other means could act on CD19 to drive antigen-negative relapse.

Self-stigma in psychiatric patients--standardization of the ISMI scale.

Objective: Self-stigma in psychiatric patients is an issue deserving both research and therapeutic attention. The objective of the present study was to evaluate the psychometric properties of a Czech version of the Internalized Stigma of Mental Illness (ISMI) scale assessing the levels of self-stigma in individuals with mental disorders.

Methods: It consists of 29 items classified into 5 subscales, namely alienation, stereotype endorsement, perceived discrimination, social withdrawal and stigma resistance.