Publications by authors named "A N Shcherbina"
We have identified a new inherited bone marrow (BM) failure syndrome with severe congenital neutropenia (CN) caused by autosomal recessive mutations in the coatomer protein complex I (COPI) subunit zeta 1 (COPZ1) gene. A stop-codon COPZ1 mutation and a missense mutation were found in three patients from two unrelated families. While two affected siblings with a stop-codon COPZ1 mutation suffered from congenital neutropenia (CN) that involves other hematological lineages, and non-hematological tissues, the patient with a missense COPZ1 mutation had isolated neutropenia.
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- Activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) is a rare genetic disease that disrupts the immune system, causing various symptoms that usually begin in childhood.
- In a phase III clinical trial, a drug called leniolisib was shown to effectively reduce lymph node swelling and increase naïve B cell levels in both adolescents and adults with APDS compared to those given a placebo.
- The study found that leniolisib was well-tolerated across age groups and suggests it could be a promising treatment option for managing APDS by addressing the underlying cause rather than just the symptoms.
Article Synopsis
- * A pilot screening program in Russia analyzed 202,908 newborns, finding 157 with trisomy 21, indicating a birth prevalence of 1:1,284, and explored their lymphocyte levels (TREC and KREC).
- * Results showed reduced TREC values in DS newborns, similar to extremely preterm infants, and significant KREC differences from the general newborn population, highlighting the need for deeper research into immune development in DS and better support from healthcare teams.
Eugenol-containing oligoorganosilsesquioxanes were synthesized by the method of hydrolytic polycondensation in an active medium under various reaction conditions. The obtained products were characterized by Si NMR spectroscopy and MALDI-TOF spectrometry. It was shown that factors such as the reaction temperature, polycondensation duration, and molar ratio between the initial alkoxysilane monomer and acetic acid may affect the molecular weight characteristics and molecular structure of the formed oligomer, like the content of stressed cyclic units (T, DTT, TDT) and unstressed silsesquioxane units TD.
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- A male newborn was found to have low TREC values, indicating T cell lymphopenia, and genetic testing revealed a mutation linked to Ectrodactyly-Ectodermal Dysplasia-Cleft lip/palate syndrome (EEC).
- This case underscores the importance of further research on the immune system issues related to mutations in the TP63 gene, suggesting that patients with such mutations should undergo thorough immunological assessments.