A5072178788- Immunodeficiency and Autoimmune Disorders
- Platelet Disorders and Treatments
- Blood disorders and treatments
- Blood groups and transfusion
- RNA modifications and cancer
- Erythrocyte Function and Pathophysiology
- Cancer-related gene regulation
- Renal and related cancers
- Congenital Diaphragmatic Hernia Studies
- Gene expression and cancer classification
- Machine Learning in Bioinformatics
- Connective tissue disorders research
- Neurofibromatosis and Schwannoma Cases
- Inflammasome and immune disorders
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Cell Adhesion Molecules Research
- Epigenetics and DNA Methylation
- Ethics and Legal Issues in Pediatric Healthcare
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Melanoma and MAPK Pathways
- Bone Tumor Diagnosis and Treatments
- Neonatal Respiratory Health Research
- Cellular transport and secretion
- Neonatal Health and Biochemistry
- Skin Diseases and Diabetes
Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology
2019-2024
Ministry of Health of the Russian Federation
2021-2023
Background Diamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous ribosomopathy inherited bone marrow failure syndrome characterized by anemia, reticulocytopenia, decreased erythroid precursors in the with an increased risk of malignancy and, approximately 50%, physical abnormalities. Methods We retrospectively analyzed clinical data from 77 patients DBA born Russian Federation 1993 to 2014. In 74 families there was one affected individual; only three instances multiplex...
To date, fewer than 20 patients have been identified as having germline biallelic mutations in the coronin-1A gene (CORO1A) and its protein with clinical features of combined immunodeficiency characterized by T-cell lymphopenia ranging from severe phenotype to mild phenotype, recurrent infections, lymphoproliferative disorders. However, effects CORO1A disruption on actin-dependent functions primary cells not fully delineated.We sought characterize underlying defects cellular a female patient...
Ankylosing spondylitis (AS) is commonly characterized by clonal expansions of T cells. However, these populations are poorly studied and their role in disease initiation progression remains unclear. Here, we performed mass sequencing TCR V beta libraries to search for the expanded cell clones two AS patients. A number comprising more than 5% corresponding family were identified both For first time, shown be stably abundant blood samples patients prolonged period (1.5 2.5 years patients,...
Abstract Diamond–Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, associated with mutations in ribosomal protein (RP) genes. Growing data on non‐RP genes patients DBA‐like phenotype became available over recent years. We describe two the of DBA (onset macrocytic within first year life, paucity erythroid precursors marrow) and germline de novo variants TP53 gene. Both transfusion independent, probably due to L‐leucine therapy. The possible role should be considered no RP
Abstract Congenital neutropenia is a heterogeneous bone marrow failure syndrome characterized by maturation arrest of myelopoesis at the promyelocyte/myelocyte stage. Cyclic (CyN) and severe congenital (SCN) are two main forms neutropenia. Genetic analysis has shown that heterozygous mutations in ELANE gene encoding neutrophil elastase major cause these disorders. We investigated prevalence group 16 patients from 14 families with Five had typical manifestations CyN, 11 SCN. Seven different...
<ns3:p><ns3:bold>Background.</ns3:bold> This study deals with a rare (orphan) monogenic connective tissue disorder - Ehlers-Danlos syndrome kyphoscoliotic type 2 (EDSKS2). Kyphoscoliotic is an autosomal recessive caused by mutations in the FKBP14 gene (7p14.3), which encodes FKBP22 protein. According to 2017 classification, this group seven collagen spatial structure and cross-linking defects. We present results of clinical examination molecular genetic analysis for five patients age varying...
Abstract Dyskeratosis congenita (DC) is a rare congenital syndrome characterized by the triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia, predisposition to bone marrow failure malignancy. DC genetically heterogeneous X‐linked autosomal forms disease exist. Here, we report clinical description mutation analysis Russian family with DC. A novel in DKC1 raised de novo maternal grandmother's gamete was found; this 2 bp inversion exon 3: NM_001363:c.166_167invCT...
To the Editor Diamond-Blackfan anemia (DBA) is a rare clinically and genetically heterogeneous congenital bone marrow failure syndrome. The cohort of 187 patients from 179 families diagnosed with DBA was recruited during period 1993 to 2019 in Russia. Here we report update on genetic landscape Russia since 2015, when our previous paper published describing 77 probands,1 so increment 2015 manuscript 110 individuals 102 families. Of (2015-2019 period), blood samples were available for 98 92...
Evans syndrome, a combination of autoimmune hemolytic anemia and immune thrombocytopenia, is rare disease in children. In childhood, it may turn out to be one the first manifestations primary immunodeficiency or an dysregulation syndrome. Here we present clinical case patient who was initially diagnosed with syndrome did not respond well therapy. Based on results genetic testing, child then immunodeficiency, namely, activated PI(3)kd During follow-up, developed lymphoma had undergo radical...
Nephroblastoma (Wilms tumor (WT)) is an embryonal accounting for >90% of pediatric renal cancers. About 10% WTs harbor pathogenic germline mutations. The REST gene, classified as a putative suppressor, affected in 2% WTs. High-throughput molecular methods facilitate advanced diagnostics cancer. In addition to this, mutations are also associated with familial gingival fibromatosis (GFM). Reciprocally, none the articles on RESTmut WT mentions GFM comorbid condition. This report provides unique...
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...
The Fisher–Evans syndrome (FES), also known as Evans (ES) is an immune hemopathy characterized by bicytopenia or pancytopenia in the absence of other diseases. FES may be either primary/idiopathic, secondary, occurring against background In children, frequently related to a primary immunodeficiency disorder (PID). This article presents retrospective data analysis cohort pediatric patients (n = 14) with FES, aim which demonstrate necessity conducting molecular genetic investigation for PID...
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...
Hereditary angioedema (HAE) is a rare disease with autosomal dominant inheritance predominantly caused by decrease of C1 inhibitor level and/or function as result SERPING1 (C1NH) gene mutations. HAE patients develop edema variable severity and localization, often life-threatening. The data on correlation defects and clinical course conflicting. Aim: To study the variability genetic in HAE, their severity symptoms. group included 69 from 30 families, well seven symptoms-free mutation carriers...
Malignant rhabdoid tumor (MRT) is a rare malignant neoplasm of childhood, characterized by an aggressive course and extremely unfavorable prognosis. The frequency MRT outside the central nervous system (extracranial MRT) 0.02–0.03 per 100,000 children. In most cases, based on inactivating mutations suppressor gene SMARCB1, which leads to absence expression SMARCB1 ((INI1/hSNF5/BAF47) protein in cells. Aberrations SMARCA4 gene, molecular event, have been described among MRTs expressing...
Neurofibromatosis is a genetic disorder that affects the bones, soft tissues, skin, and nervous system. has been described in 1882, however, there still no specific treatment for this disease protocols most frequent life-threatening complications such as non-malignant tumors deriving from cells of peripheral nerve sheaths. Progress molecular study discovered underlying alteration tumor. This knowledge provides base clinical trials with new drugs. MEK-inhibitors are acting on RAS-MAPK...
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...
This paper considers the use of machine learning for diagnosis diseases that is based on analysis a complete gene expression profile. distinguishes our study from other approaches require preliminary step finding limited number relevant genes (tens or hundreds genes). We conducted experiments with genetic profiles (20 531 genes) we obtained after processing transcriptomes 801 patients known oncologic diagnoses (oncology lung, kidneys, breast, prostate, and colon). Using indextron (instant...
Background: Differential diagnosis of isolated chronic thrombocytopenia is often challenging and covers a wide range disorders, including immune (ITP), inherited platelet functional disorders (IPFD), onset bone marrow failure secondary thrombocytopenias. Aims: To assess the role next generation sequencing (NGS) in diagnostics thrombocytopenias; to an optimal diagnostic algorithm for these disorders. Methods: Twenty seven children adolescents aged from 4 months 17 years were chosen among...