Publications by authors named "Maxim Alexenko"
Article Synopsis
- A study analyzed genetic defects in 1809 Russian children with inborn errors of immunity (IEI), finding that 61.5% had identifiable genetic issues.
- The defects predominantly involved single gene variants (87.9%), with a significant portion of variants being novel, highlighting the genetic diversity within this population.
- Inherited patterns of defects showed a mix of autosomal dominant (29%), X-linked (34%), and autosomal recessive (37%), with notable cases of "Slavic" mutations contributing to the findings.
Background: To date, fewer than 20 patients have been identified as having germline biallelic mutations in the coronin-1A gene () and its protein with clinical features of combined immunodeficiency characterized by T-cell lymphopenia ranging from the severe phenotype to the mild phenotype, recurrent infections, and lymphoproliferative disorders. However, the effects of CORO1A protein disruption on actin-dependent functions in primary cells have not been fully delineated.
Objective: We sought to characterize the underlying defects of actin-dependent cellular functions in a female patient with combined immunodeficiency caused by a novel missense variant in the gene in combination with a heterozygous microdeletion of chromosome 16p11.