A5074777364- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- Autoimmune and Inflammatory Disorders Research
- Pediatric health and respiratory diseases
- Lysosomal Storage Disorders Research
- Chronic Lymphocytic Leukemia Research
- Inflammasome and immune disorders
- Viral-associated cancers and disorders
- Carbohydrate Chemistry and Synthesis
- Transgenic Plants and Applications
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Blood groups and transfusion
- Complement system in diseases
- Immune responses and vaccinations
- Immune Cell Function and Interaction
- Gastrointestinal disorders and treatments
- Chemokine receptors and signaling
- NF-κB Signaling Pathways
- Medical and Biological Ozone Research
- Diabetes and associated disorders
- Congenital Ear and Nasal Anomalies
- Neonatal Respiratory Health Research
- Vascular Malformations and Hemangiomas
- Digestive system and related health
- Acute Lymphoblastic Leukemia research
Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology
2016-2024
Ministry of Health of the Russian Federation
2021-2023
Acquired aplastic anemia (AA) is still the diagnosis of exclusion. The purpose research was to identify clinical and laboratory signs that do not correspond acquired AA allowing diagnose other diseases accompanied by cytopenia. Materials methods used: Authors represent results diagnostic search in pediatric patients (0 18 y/o) with a suspected who underwent remote laboratories National Scientific Practical Center for Pediatric Hematology, Oncology Immunology named after Dmitry Rogachev...
Chronic granulomatous disease is a primary immunodeficiency, characterized by violation of the oxygen-dependent mechanisms phagocytosis. Mutations in genes encoding proteins NADPH-oxidase complex lead to respiratory burst. Clinical manifestations are recurrent bacterial and fungal infections, development complications due defect autophagy, accompanied an increase level interleukin-1 inthe blood. The treatment this continuous preventive antimicrobial therapy, specific therapy for...
Immunoglobulin replacement therapy is the gold standard of treatment for patients with antibody deficiencies. We aimed to investigate efficacy and safety subcutaneous immunoglobulin (SCIG) Hizentra in primary immunodeficiencies. This study was approved by Independent Ethics Committee Academic Council Dmitry Rogachev National Medical Research Center Pediatric Hematology, Oncology Immunology. All / or their legal representatives gave informed consent this treatment. In our study, 12 under 18...
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...
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...
Subcutaneous immunoglobulins (SCIgs) have been widely used in patients with inborn errors of immunity (IEIs) and shown to be effective well tolerated. Here, we assessed efficacy safety replacement therapy SCIgs a large heterogeneous cohort IEIs. The study was approved by the Independent Ethics Committee Scientific Council Dmitry Rogachev National Medical Research Center Pediatric Hematology, Oncology Immunology Ministry Healthcare Russia. All and/or their legal representatives signed...
Severe combined immunodeficiency (SCID) is a primary that presents with life-threating symptoms in early infancy and has poor prognosis if not promptly treated. Here we present an analysis of infectious presentation its course depending on clinical immunophenotypic form SCID. This study supported by the Independent Ethics Committee approved Academic Council Dmitry Rogachev National Medical Research Center Pediatric Hematology, Oncology Immunology. 54 patients were diagnosed SCID our center...
Chronic mucocutaneous candidiasis is a complication occurring in patients with congenital immune disorders, characterized by recurrent infections of the skin, nails, and mucous membranes caused C. albicans. The STAT1 gain function (GOF) defect primary immunodeficiency condition resulting from heterozygous mutations gene. regulatory transcription factor key component JAK-STAT pathway mediating interferon-α/β/γ signaling. GOF gene lead to hyperphosphorylation protein same name increased...
The hyper-IgE syndrome with dominant-negative mutations in signal transducer and activator of transcription 3 (STAT3) gene is a combined primary immunodeficiency characterized by severe bacterial infections (skin lungs bullae formation), characteristic phenotype, serum IgE elevation, eosinophilia, as well connective tissue, bone anomalies. Patients also have high risk cancer. STAT3 factor important for the JAK/STAT signaling pathway, which plays key role synthesis cytokines, hormones,...
The aim of this study was to analyze the clinical, laboratory and molecular genetic data 20 patients (9 boys, 11 girls) diagnosed with cryopyrin-associated periodic syndrome (CAPS) an assessment efficacy safety therapy in 6 inhibitor interleukin-1 receptor – anakinra. approved by Independent Ethics Committee Scientific Council D. Rogachev NMRCPHOI. patients' parents gave their consent use child's data, including photographs, for research purposes publications. age CAPS manifestation ranged...
X-Linked lymphoproliferative syndrome (XLP) is a primary immunodeficiency characterized by atypical reaction to Epstein-Barr virus (EBV), resulting in the development of hemophagocytosis, disgammaglobulinemia, and, depending on type, malignant lymphoproliferation. Three types XLP are known. type 1 result mutation SH2D1A gene encoding SAP adapter molecule. This predisposition EBV infection, hemophagocytic lymphohistiocytosis (HLH), and 2 similar some clinical manifestations, such as infection...
The article is devoted to an extremely rare variant of type I interferonopathies associated with a homozygous gain function (GOF) mutation in the STAT2 gene 5-year-old child. This genetic defect was first described 2019, and so far only 3 cases are known world similar pathology. Here we present fourth clinical case our experience managing patient GOF. presents key aspects pathogenesis, picture based on analysis all disease. absence established criteria methods treatment for this disease due...
Rapid desensitization therapy (RDT) is a drug administration procedure when temporary tolerance to the medication can be reached within several hours. The method based on stepwise of increasing doses medication, starting from minimal dose until total target achieved. RDT widely used severe allergic reaction (up anaphylaxis) develops vital irreplaceable drug. has proven effective and safe with use chemotherapy drugs, monoclonal antibody certain antibiotics, enzyme replacement therapy. article...
Severe combined immunodeficiency (SCID) is the most life-threatening form of primary immunodeficiency, fatal within first years life if hematopoietic stem cell transplantation (HSCT) not performed. Early diagnosis crucial for prevention multiple complications, which in turn allows successful HSCT. Current publication contains clinical recommendations SCID and its complex treatment, including HSCT, prenatal diagnostics genetic family counselling.
WHIM syndrome (warts, hypogammaglobulinemia, infections, myelokathexis) is a rare combined primary immunodeficiency. Here we describe 10 Russian patients with that were followed in the Dmitry Rogachev National Medical Research Center оf Pediatric Hematology, Oncology and Immunology. This study supported by Independent Ethics Committee approved Academic Council of Neutropenia lymphopenia observed all patients, hypogammaglobulinemia – 7/10 patients. In cases bone marrow analysis demonstrated...
Congenital hyperinsulinism (CHI) is a group of rare genetic disorders characterized by insulin overproduction. CHI causes life-threatening hypoglycemia in neonates and infants. Bloom syndrome autosomal recessive disorder caused mutations the BLM gene resulting instability an elevated rate spontaneous sister chromatid exchanges. It leads to resistance, early-onset diabetes, dyslipidemia, growth delay, immune deficiency cancer predisposition. Recent studies demonstrate that highly expressed...
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency that refers to defects in the humoral link and characterized by severe recurrent infectious episodes as well low concentration of serum immunoglobulins up their complete absence. BTK (Bruton tyrosine kinase), protein coding gene responsible for this disease, whose mutations lead impaired maturation B-lymphocytes followed defect antibody production. The survival rate patients with early diagnosis timely replacement therapy...
<h3>Background</h3> PSTPIP1-gene associated autoinflammatory diseases is a group of clinically diverse syndromes predominantly manifested by various skin conditions (pyoderma gangrenosum, acne, hidradenitis suppurativa, necrotizing fasciitis). Yet one them – PAMI manifests mainly with haematologic abnormalities and autoinflammation or without purulent features, presenting diagnostic difficulties for treating physicians haematologists. treatment also challenging as IL-1 inhibitors alleviate...
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...