A5033489493- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- Inflammasome and immune disorders
- Cell Adhesion Molecules Research
- Cytomegalovirus and herpesvirus research
- Transition Metal Oxide Nanomaterials
- Viral-associated cancers and disorders
- Pediatric health and respiratory diseases
- Autoimmune and Inflammatory Disorders Research
- Cellular Mechanics and Interactions
- Electron and X-Ray Spectroscopy Techniques
- Medical and Biological Ozone Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Eosinophilic Disorders and Syndromes
- Vascular Malformations and Hemangiomas
- Blood groups and transfusion
- Sexual Differentiation and Disorders
- HIV, TB, and STIs Epidemiology
- T-cell and B-cell Immunology
- Carbohydrate Chemistry and Synthesis
- Neutropenia and Cancer Infections
- Platelet Disorders and Treatments
- Eosinophilic Esophagitis
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Digestive system and related health
Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology
2019-2024
Ministry of Health of the Russian Federation
2021-2022
Karpov Institute of Physical Chemistry
1988-1991
Wiskott-Aldrich syndrome (WAS) is associated with thrombocytopenia of unclear origin. We investigated real-time cytosolic calcium dynamics, mitochondrial membrane potential and phoszphatidylserine (PS) exposure in single fibrinogen-bound platelets using confocal microscopy. The WAS had higher resting levels, more frequent spikes, their mitochondria frequently lost followed by PS (in 22.9% vs 3.9% controls; P<0.001) after the collapse last mitochondria. This phenomenon was inhibited...
BACKGROUND. Variants in recombination-activating genes (RAG) are common genetic causes of autosomal recessive forms combined immunodeficiencies (CID) ranging from severe immunodeficiency (SCID), Omenn syndrome (OS), leaky SCID and CID with granulomas and/or autoimmunity (CID-G/AI) even milder presentation antibody deficiency. OBJECTIVE. We aim to estimate the incidence, clinical presentation, variability treatment outcome geographic distribution patients RAG defects populations inhabiting...
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...
Wiskott–Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by microplatelet thrombocytopenia, eczema, frequent infections and an increased risk of autoimmune disorders malignant neoplasms. Mutation detection in WAS gene the gold standard for diagnosis this disorder. This encodes WASP protein, which works as regulator cell cytoskeleton involved transmission many intracellular signals. Nowadays there no rapid reliable method that allows to confirm short period...
Cryopyrin-Associated Periodic Syndrome (CAPS) refers to a group of autoinflammatory diseases and is caused by autosomal dominant mutations the NLRP3 gene coding. Relapsing fever, rash, laboratory changes inflammatory lesions various organs are typical manifestations CAPS. Inhibitors interleukin 1, including canakinumab, modern means pathogenetic therapy patients with The article presents treatment results in 5 pediatric Application canakinumab led relief all major symptoms (fever, blood...
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...
<h3>Background</h3> Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by mutations in MVK gene. MKD patients typically have an early onset of symptoms including recurrent episodes high fever, abdominal pain, diarrhea and vomiting, arthralgia lymphadenopathy. However not all typical clinical picture MKD. <h3>Methods</h3> We conducted retrospective analysis features six (4 females, 2 males) with (confirmed identification gene mutations). Four...
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...
The aim of this study was to analyze the clinical, laboratory and molecular genetic data 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD). Subjects methods . age MKD manifestation ranged from 0 30.0 months (M – 1.5 months). Clinical manifestations their severity were extremely diverse: symptoms resembling Marshall’s severe systemic respiratory failure, hepatosplenomegaly pancytopenia. Results/Conclusion All had homozygous/compound-heterozygous...