A5022815117- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- Autoimmune and Inflammatory Disorders Research
- Blood groups and transfusion
- Immune Cell Function and Interaction
- Platelet Disorders and Treatments
- Chronic Lymphocytic Leukemia Research
- Viral-associated cancers and disorders
- Cell Adhesion Molecules Research
- Parvovirus B19 Infection Studies
- Neurogenetic and Muscular Disorders Research
- Histiocytic Disorders and Treatments
- Digestive system and related health
- Renal and related cancers
- Pluripotent Stem Cells Research
- Diabetes and associated disorders
- Eosinophilic Disorders and Syndromes
- Gastrointestinal disorders and treatments
Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology
2019-2024
Ministry of Health of the Russian Federation
2020-2023
Wiskott–Aldrich Syndrome (WAS) is a primary immunodeficiency (PID), characterized by varying severity of typical symptoms: thrombocytopenia, infections, immune dysregulation and cancer predisposition. Therefore any lymphoproliferative complications in WAS patients require lymph node biopsy. However, the interpretation histological picture often complicated requires knowledge pathomorphology with immunodeficiency. This article describes rare combination late diagnosis lymphadenopathy, which...
<title>Abstract</title> More than 450 genetic defects result in inborn errors of immunity (IEI). Their individual prevalence specific cohorts is influenced by national characteristics and other factors. We present results testing conducted 1809 Russian children with IEI. Genetic confirming IEI were found 1112 out (61.5%) probands. These included variants 118 single genes (87.9% patients) aberrations 6 chromosomes (11.8%). Notably, three patients harbored pathogenic more one gene. Large...
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency (PID) characterized by defective B cell maturation, low serum immunoglobulin concentrations and recurrent infectious episodes. The disease caused defects of the BTK gene, which encodes Bruton's tyrosine kinase. Along with frequent infections, autoimmune complications XLA are an important issue. Inflammatory bowel disease-like syndromes (IBD) represent special group XLA, their pathophysiology largely unknown. Materials methods...
Background: The advent of next-generation sequencing (NGS) has revolutionized the analysis genetic data, enabling rapid identification pathogenic variants in patients with inborn errors immunity (IEI). Sometimes, use NGS-based technologies is associated challenges evaluation clinical significance novel variants. Methods: In silico prediction tools, such as SpliceAI neural network, are often used a first-tier approach for primary examination uncertain significance. Such tools allow us to...
To date, about 500 genetic defects are known to cause clinical manifestations of immunodeficiency. Genetic diagnosis is necessary guide the management patients with inborn errors immunity (IEI) and plays an important role in counselling families. find IEI, 2395 probands were tested, 1507 (65.7%) them we identified 164 forms IEI 143 single genes abnormalities 8 chromosomes. The majority IEIs (89.1%) monogenic, 98.6% being germline origin. Only 10.6% due large chromosomal breaks. most common...
Thrombocytopenia is a common abnormality in neonates. The etiology of neonatal thrombocytopenia ranges from acquired causes such as immune-mediated and sepsis to rare congenital syndromes. There may be objective difficulties identifying the newborns clinical practice. All hematological nonhematological features newborn his family members must taken into account for an accurate diagnosis. In our study, we analysed cohort 52 children with developed period retrospectively assessed range their...
Primary immunodeficiencies (PIDS) are genetically caused heterogeneous diseases of the immune system. One genetic phenomenon affecting phenotypic diversity PIDS is a reverse somatic mosaicism (RM) observed in different groups PIDS. The majority RM cases described patients with Wiskott–Aldrich syndrome (WAS). Despite fact that PM does not always lead to mild form disease, presence this can cause delay diagnosis and start appropriate treatment. This article presents case patient mutation WAS...
Х-linked lymphoproliferative syndrome (XLP) is a life-threatening primary immunodeficiency, characterized by hemophagocytic lymphohistiocytosis, lymphoproliferation and hypogammaglobulinemia. The most frequent forms of XLP – XLP1 XLP2 are caused mutations the SH2D1A BIRС4/XIAP genes, coding for SAP XIAP proteins, respectively. Early diagnosis important as it allows to prevent severe complications introducing specific therapy proceed hematopoietic stem cell transplantation. Here we describe...
X-linked lymphoproliferative syndrome type 1 (XLP1) and 2 (XLP2) are primary immunodeficiencies (PID), combined in one group because of shared abnormal response to Epstein–Barr virus (EBV) caused by mutations SH2D1A XIAP genes, respectively. Hemophagocytic lymphohistiocytosis (HLH) is a frequent life-threatening complication both diseases. We analyzed haematological complications, such as HLH cytopenia, 12 patients with XLP1 11 – XLP2. The research was approved Independent ethic committee...
X-linked lymphoproliferative syndrome type 1 (XLP1) is a primary immunodeficiency, the most dramatic manifestations of which are hemophagocytic lymphohistiocytosis (usually associated with Epstein-Barr virus), lymphoma and dysgammaglobulinemia. Immune symptoms like vasculitis, aplastic anemia others extremely rare. Specialists awareness suspicion regarding such complications XLP1 facilitate correct diagnosis early curative treatment - hematopoietic stem cell transplantation (HSCT). Here we...
Reduction of haemorrhage and improving the quality life for patients with Wiskott–Aldrich syndrome (WAS) before hematopoietic stem cell transplantation (HSCT) are most important goals. We aimed to investigate efficacy safety thrombopoietin receptor agonist (TPO-RA) in children WAS. This study is supported by Independent Ethics Committee approved Academic Council Dmitry Rogachev National Medical Research Center Pediatric Hematology, Oncology Immunology. 67 genetically confirmed WAS treated...
Compensatory or revertant somatic mutations (RSM) is a well-known phenomenon in patients with PIs. RSM can lead to the restoration of functional protein expression some cell populations and thus influence severity clinical manifestations PI. The WAS gene, mutation that leads development Wiskott–Aldrich syndrome (WAS), associated high levels RSM. In our study, we aimed describe detail WAS, also try study its effect on phenotype. Materials methods research: single-center, prospective, open,...
CTLA4 deficiency is a primary immunodeficiency state (PIDS) caused by monoallelic mutations in the gene of same name, and belongs to group immunodeficiencies with immune dysregulation. This work analyzes results 11 patients observed at Rogachev National Medical Research Center Pediatric Hematology, Oncology Immunology from October 2012 January 2021. In 10 had some manifestations dysregulation, most frequent were cytopenias (10/11), lymphoproliferation (9/11) lung damage type interstitial...
Autoimmune lymphoproliferative syndrome is a primary immunodeficiency caused by defective FAS-mediated apoptosis and usually accompanied hypergammaglobulinemia. Yet some exceptions take place in the cohort of patients that complicated timely diagnosis, particular, symptoms may resemble common variable immune deficiency. In this article, we describe patient with rare case agammaglobulinemia genetically confirmed autoimmune syndrome. The patient's parents agreed to use information, including...