A5065132052- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- Inflammasome and immune disorders
- Blood groups and transfusion
- Viral Infections and Vectors
- Orthopedic Infections and Treatments
- Kawasaki Disease and Coronary Complications
- Cytokine Signaling Pathways and Interactions
- Adolescent and Pediatric Healthcare
- Infectious Diseases and Tuberculosis
- Immune responses and vaccinations
- Cell Adhesion Molecules Research
- Human Health and Disease
- Viral-associated cancers and disorders
- Child and Adolescent Health
- Atherosclerosis and Cardiovascular Diseases
- Pneumocystis jirovecii pneumonia detection and treatment
- Autoimmune and Inflammatory Disorders Research
- Osteomyelitis and Bone Disorders Research
- Tumors and Oncological Cases
- Diabetes and associated disorders
- Lymphoma Diagnosis and Treatment
Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology
2019-2024
Ministry of Health of the Russian Federation
2020-2022
Chronic nonbacterial osteomyelitis (CNO) is a rare autoinflammatory disease from the group of multifactorial diseases. It characterized by non-infectious recurrent bone lesions, usually manifesting in childhood. The aim this study was to analyze clinical, laboratory, radiological and histological data 33 patients (12 boys, 21 girls) with diagnosis chronic osteomyelitis. This supported Independent Ethics Committee approved Academic Council Dmitry Rogachev National Medical Research Center...
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...
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...
The article presents data on the features of COVID-19 infection in patients with primary immunodeficiencies (PIDs) Russian Federation, obtained through National association experts PID (NAEPID) registry. Materials and methods: from March 1, 2020 to October 15, 2020, 15 cases close intrafamilial contact between PIDs without reliable first 23 were reported. Results: 6/23 infected people had asymptomatic course infection, 9/23 – mild form, 8/23 moderate form disease, one patient a severe fatal...
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...
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...
This article is dedicated to one of the auto-respiratory syndromes – adenosine deaminase deficiency 2 (deficiency DADA2) in 12-year-old. rare disease caused by mutations ADA2 gene (CECR1), that encodes protein. Clinical manifestations DADA2 are very diverse and usually include systemic inflammatory reaction form fever attacts, vasculopathy livedo reticulum, polyarteritis nodosa, ischemic and/or hemorrhagic strokes, as well signs immunodeficiency with hypogammaglobulinemia bone marrow...
Epstein–Barr virus-associated smooth muscle tumors (EBV-SMTs) are rare soft tissue neoplasms that typically occur in conditions of secondary immunodeficiency due to human virus or immunosuppression after organ transplantation. Beyond that, EBV-SMTs patients with primary immunodeficiencies (PIDs). pathogenesis is still unclear but it was shown the key mechanism tumor development T- and NK-cell defect. Treatment strategy depends not only on localization resectability, also etiology its...
This paper presents a case of rare primary immunodeficiency belonging to the group monogenic autoinflammatory diseases with PLCy2-associated antibody deficiency and immune dysregulation (APLAID). Here we describe our experience in management 7-year-old child this syndrome discuss key information about pathogenesis clinical manifestations APLAID based on analysis known cases. Due rarity novelty disease, there is lack established criteria for identification diagnosis no standard care. We...