Case report: Clinical, genetic and immunological characterization of a novel variant in a patient with McLeod syndrome.

Pathogenic variants in the gene are associated with dysfunction or loss of XK protein leading to McLeod syndrome (MLS), a rare X-linked neuroacanthocytosis syndrome with multisystemic manifestation. Here we present clinical, genetic and immunological data on a patient originally admitted to our clinic for presumed post-COVID-19 syndrome, where thorough clinical work-up revealed a novel frameshift deletion in causal for the underlying phenotype. We additionally review the clinicogenetic spectrum of reported McLeod cases in the literature.

Intensity of endogenous thrombocytopenia after autologous stem cell transplantation in patients prophylactically transfused with platelets.

Background And Objectives: Large clinical trials have demonstrated that some patient groups with hypoproliferative thrombocytopenia benefit from prophylactic platelet transfusions, while in others, a therapeutic transfusion regimen might be sufficient. The remaining capacity to generate endogenous platelets might be helpful to select the platelet transfusion regimen. We assessed whether the recently described method of digital droplet polymerase chain reaction (PCR) can be used to assess the endogenous platelet levels in two groups of patients undergoing high-dose chemotherapy with autologous stem cell transplantation (ASCT).

Digital polymerase chain reaction to monitor platelet transfusions in cardiac surgery patients.

Background And Objectives: Corrected count increment (CCI) measurements monitor the effectiveness of platelet transfusions in haemato-oncology, but they usually fail in patients undergoing cardiac surgery. We investigated whether polymerase chain reaction (PCR) of mitochondrial single-nucleotide polymorphisms (SNPs) is able to monitor the survival of transfused platelets in these patients.

Materials And Methods: Leukocyte-free, platelet-rich plasma was prepared from patients' blood to measure platelet counts based on patient-/donor-specific SNPs by digital PCR after DNA extraction.

A nait-associated and previously unreported mutation in the ITGB3 gene with a low frequency in the local population.

Background: Neonatal alloimmune thrombocytopenia is a rare but potentially severe postnatal complication caused by maternal allo-antibodies against platelet antigens of the newborn. In relatively few cases, immunisation against low-frequency antigens has been reported.

Methods: Platelet antigens of a newborn with severe thrombocytopenia and his family members were investigated by serological and molecular biological methods.