Publications by authors named "Anna A Mukhina"
Newborn screening (NBS) for severe inborn errors of immunity (IEI), affecting T lymphocytes, and implementing measurements of T cell receptor excision circles (TREC) has been shown to be effective in early diagnosis and improved prognosis of patients with these genetic disorders. Few studies conducted on smaller groups of newborns report results of NBS that also include measurement of kappa-deleting recombination excision circles (KREC) for IEI affecting B lymphocytes. A pilot NBS study utilizing TREC/KREC detection was conducted on 202,908 infants born in 8 regions of Russia over a 14-month period.
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- - Mutations in the RAC2 protein are linked to various immune disorders in patients, including neonatal SCID and infantile diseases resembling leukocyte adhesion deficiency, with 15 new mutations identified among 54 patients studied.
- - The study highlighted that different types of mutations in RAC2 influenced disease outcomes; for instance, certain mutations led to neonatal SCID while others caused later-onset combined immune deficiency or LAD-like diseases.
- - Clinical analysis revealed significant immune system issues among affected patients, including low levels of T and B cells, recurrent infections, and abnormalities in neutrophil function, indicating severe impacts on their immune response.
Article Synopsis
- The J Project (JP) is a collaborative program aimed at improving physician education and clinical research on inborn errors of immunity (IEI), established in 2004 and currently spanning 32 countries, primarily in Eastern and Central Europe.
- By the end of 2021, JP organized 344 meetings to enhance awareness and improve diagnosis and treatment for patients with IEI, with a significant increase in annual meetings over the years.
- Data from patient reports across 30 countries indicated a prevalence of 4.9 patients per population, mostly featuring patients with predominantly antibody deficiency, along with a strong commitment to treatments like immunoglobulin substitution and hematopoietic stem cell therapy.
Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. Characterization of epidemiological and clinical data via national registries has proven to be a valuable tool of studying these diseases. The Russian PID registry was set up in 2017, by the National Association of Experts in PID (NAEPID).
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