Complex Multisystem Phenotype With Immunodeficiency Associated With Mutations: Reports of Three Patients and Review of the Literature.

Mutations in the neuroblastoma-amplified sequence () gene were originally described in patients with skeletal dysplasia or isolated liver disease of variable severity. Subsequent publications reported a more complex phenotype. Among multisystemic clinical symptoms, we were particularly interested in the immunological consequences of the deficiency.

Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis.

Primary immunodeficiency diseases (PID) area heterogeneous group of disorders caused by genetic defects of the immune system, which manifest clinically as recurrent infections, autoimmune diseases or malignancies. Early detection of PID remains a challenge, particularly in older children with milder and less specific symptoms. This study aimed to assess TREC and KREC diagnostic ability in PID.

TREC and KREC Levels as a Predictors of Lymphocyte Subpopulations Measured by Flow Cytometry.

Primary immunodeficiency diseases (PID) is a heterogeneous group of disorders caused by genetic defects of the immune system, which manifests clinically as recurrent infections, autoimmune diseases, or malignancies. Early detection of other PID remains a challenge, particularly in older children due to milder and less specific symptoms, a low level of clinician PID awareness and poor provision of hospital laboratories with appropriate devices. T-cell recombination excision circles (TREC) and kappa-deleting element recombination circle (KREC) in a dried blood spot and in peripheral blood using real-time polymerase chain reaction (PCR) are used as a tool for severe combined immune deficiency but not in PID.

Abnormal conductivity behavior in porous lead telluride films.

We report the experimental observation of the novel phenomenon of the resistivity decrease in porous PbTe layers during the pore formation process. Investigations were performed on the n-PbTe films with 2.3-μm thickness, which were near the point of the conductivity-type inversion at room temperature.

Investigations of the pore formation in the lead selenide films using glacial acetic acid- and nitric acid-based electrolyte.

We report a novel synthesis of porous PbSe layers on Si substrates using anodic electrochemical treatment of PbSe/CaF2/Si(111) epitaxial structures in an electrolyte solution based on glacial acetic acid and nitric acid. Electron microscopy, x-ray diffractometry, and local chemical microanalysis investigations results for the porous layers are presented. Average size of the synthesized mesopores with ~1010 cm-2 surface density was determined to be 22 nm.