A5036719445- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- Blood groups and transfusion
- Complement system in diseases
- Lysosomal Storage Disorders Research
- Neonatal Respiratory Health Research
- Pediatric health and respiratory diseases
- Renal Diseases and Glomerulopathies
- Platelet Disorders and Treatments
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Peptidase Inhibition and Analysis
Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology
2022-2024
Ministry of Health of the Russian Federation
2022-2023
One of the well-known groups primary immunodeficiency conditions includes immunodeficiencies with impaired DNA repair. Primary repair include Cernunnos protein deficiency. Pathogenic biallelic genetic variants in NHEJ1 gene lead to development this immunodeficiency. The is involved processes non-homologous and V(D)J recombination T- B-lymphocyte receptors. In clinical picture patients deficiency, leading manifestations are following: infectious complications within framework combined...
The introduction of substitution therapy for subcutaneous immunoglobulin (SCIG) into clinical immunological practice has allowed patients with inborn errors immunity (IEI), regardless age, to carry out independently at home. This circumstance played a leading role in improving the QoL (Quality Life) patients. A total 233 different ages IEI were enrolled study. All switched from IVIG SCIG 16,5% therapy. was administered every 7–10 days least 12 months via rapid push method. Based on results...
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...
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...
The article presents a clinical case of patient with mucopolysaccharidosis type I (MPS I), whose infectious status was aggravated by the course disseminated BCG infection. Currently, there is no clear understanding role immune system in polymorphism manifestations patients MPS, however, phagocytosis defects have been shown single reports MPS I. high incidence complications requires deeper immunological examination large groups patients.
Conditions associated with defects in the SAMD9/SAMD9L genes represent a relatively new group of diseases characterized by diverse range clinical manifestations: from multisystem disorders such as MIRAGE syndrome to isolated hematological manifestations. A previous history infectious patients gene before onset manifestations is most cases immune system. Gain- or change-of-function germline mutations are common predisposition factors for pediatric myelodysplastic (MDS) monosomy 7. However,...