Primary Immunodeficiencies in Russia: Data From the National Registry.

Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. Characterization of epidemiological and clinical data via national registries has proven to be a valuable tool of studying these diseases. The Russian PID registry was set up in 2017, by the National Association of Experts in PID (NAEPID).

[Osteochondroma in children and adolescents].

Osteochondroma is called a benign cartilage-forming tumor arising from an aberrant subperiosteal cartilage. Multiple osteochondromas syndrome (MOS) is an autosomal dominant disease, the basis for which is mutations in the EXT (EXT1 or EXT2) genes. Osteochondroma is one of the most common benign bone tumors.

[Effect of succinate-containing solution on the level of metabolism during perioperative period in children].

Design: A randomized prospective study.

Patients And Methods: The study included 87 children aged from 5 to 18, ASA I-II. The patients were divided into two groups.

Dual neuroprotective and neurotoxic effects of cannabinoid drugs in vitro.

Either protective or toxic effects of cannabinoids on cell survival have been reported extensively in the literature; however, the factors that determine the direction of the effect are still obscured. In this study we have used the neuroblastoma cell line N18TG2 that expresses CB1 cannabinoid receptors to investigate several factors that may determine the consequences of exposure to cannabinoid agonists. Cells that were grown under optimal, stressful, or differentiating conditions were exposed to cannabinoid agonists and then assayed for cell viability by measuring MTT, LDH, and caspase-3 activity.

[Opsoclonus-myoclonus syndrome in children].

To study clinical peculiarities of parainfectious opsoclonus-myoclonus syndrome (OMS) in children and to elaborate approaches to its pharmacotherapeutic correction, 20 children, including 12 girls and 8 boys, have been examined using neurological, neurophysiological, immunological and virological methods along with magnetic resonance tomography (MRT). Age-at-disease-onset was from 8 months to 3 years old. The development of neurological symptoms was related to a virus infection (55% of cases) or vaccination (15%).

Analysis of toll-like receptor-dependent production of proinflammatory cytokines in vitro by human peripheral blood mononuclears of donors and patients with primary immunodeficiency.

The production of TNF-alpha and IFN-alpha cytokines by peripheral blood mononuclears in response to stimulation by TLR2/6, TLR4, TLR5, TLR9 ligands (zymosan, LPS, flagellin, and CpG-oligodeoxynucleotide, respectively) was studied in donors and patients with common variable immunodeficiency. Individual characteristics of TNF-alpha production by mononuclears were revealed in donors. Reduced stimulated production of TNF-alpha in response to stimulation with TLR4 and TLR5 ligands in vitro was detected in patients with common variable immunodeficiency.

Mycobacterial infections in primary immunodeficiency patients.

Primary immunodeficiencies (PID) are a diverse group of hereditary diseases leading to the impaired immune response that creates high susceptibility to mycobacterium infection. High susceptibility to mycobacterial infections of patients suffering from defects of phagocytosis and combined immunodeficiencies can be explained by predominant participation of macrophages and T lymphocytes in the specific immune response. Mycobacterium tuberculosis, Bacille Calmette-Guerin, and non-tuberculosis mycobacterium (NTM) may cause a severe disease in patients with PIDs.

Nijmegen breakage syndrome.

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, characterized by microcephaly, growth retardation, immunodeficiency, chromosome instability, radiation sensitivity, and a strong predisposition to lymphoid malignancy. The gene responsible for the development of this syndrome (NBS1) was mapped on chromosome 8q21. The product of this gene--nibrin--is a protein with 95 kDa molecular weight (p95).

[Effect of toll-like receptors (TLR) ligands on in vitro synthesis of proinflammatory cytokines by peripheral blood mononuclear cells from healthy persons and from patients with common variable immunodeficiency].

Production of citokines of tumor-necrosis factor (TNF)-alpha and interferon (IFN)-alpha by peripheral blood mononuclear cells (PBMC) from healthy men and from patients with common variable immunodeficiency (CVID) after stimulation with zymosan, lypopolysaccharides, flagellin and CpG, which are ligands of TLR 2/6, TLR 4, TLR 5, TLR 9 respectively, was studied in vitro. In healthy men production of TNF-alpha varied between individuals, whereas synthesis of IFN-alpha was similar. Spontaneous production of TNF-alpha by PBMC in patients with CVID was increased and accompanied by decrease in TNF-alpha production stimulated by each analyzed ligands except CpG.