Publications by authors named "I V Kondratenko"
Wiskott-Aldrich syndrome (WAS) is a multifaceted monogenic disorder with a broad disease spectrum and variable disease severity and a variety of treatment options including allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT). No reliable biomarker exists to predict disease course and outcome for individual patients. A total of 577 patients with a WAS variant from 26 countries and a median follow-up of 8.
View Article and Find Full Text PDFActivated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
J Allergy Clin Immunol
October 2023
Background: Activated phosphoinositide-3-kinase δ syndrome (APDS) is an inborn error of immunity (IEI) with infection susceptibility and immune dysregulation, clinically overlapping with other conditions. Management depends on disease evolution, but predictors of severe disease are lacking.
Objectives: This study sought to report the extended spectrum of disease manifestations in APDS1 versus APDS2; compare these to CTLA4 deficiency, NFKB1 deficiency, and STAT3 gain-of-function (GOF) disease; and identify predictors of severity in APDS.
Purpose: Allogeneic hematopoietic stem cell transplantation (HSCT) is an established therapy for many inborn errors of immunity (IEI). The indications for HSCT have expanded over the last decade. The study aimed to collect and analyze the data on HSCT activity in IEI in Russia.
View Article and Find Full Text PDFArticle 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.
Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and Founder Variant c.657_661del5.
Front Immunol
June 2021
Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to lymphoid malignancies. The majority of NBS patients are identified with a homozygous five base pair deletion in the ( gene (c.657_661del5, p.
View Article and Find Full Text PDF