β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination.

NK cell deficiency (NKD) occurs when an individual's major clinical immunodeficiency derives from abnormal NK cells and is associated with several genetic etiologies. Three categories of β-actin-related diseases with over 60 ACTB (β-actin) variants have previously been identified, none with a distinct NK cell phenotype. An individual with mild developmental delay, macrothrombocytopenia, and susceptibility to infections, molluscum contagiosum virus, and EBV-associated lymphoma had functional NKD for over a decade.

Clinical Utility and Reimbursement of Next-Generation Sequencing-Based Testing for Myeloid Malignancies.

Next-generation sequencing is becoming increasingly important for the diagnosis, risk stratification, and management of patients with established or suspected myeloid malignancies. These tests are being incorporated into clinical practice guidelines and many genetic alterations now constitute disease classification criteria. However, the reimbursement for these tests is uncertain.

Utility of Flow Cytometry Analysis in the Detection of Nonhematologic Neoplasms: An Overview.

Flow cytometry analysis has stood the test of time as a powerful tool in the assessment of hematologic neoplasms. The role of flow cytometry has expanded to evaluate various nonhematologic neoplasms encountered in body cavity malignant effusions, lymph nodes, and other body sites. This review explores the use of routine antibody panels as well as specially designed multicolor antibody panels that have been investigated by different groups and reported in the literature for evaluating nonhematologic neoplasms.