No abstract

The article is devoted to an extremely rare variant of type I interferonopathies associated with a homozygous gain of function (GOF) mutation in the STAT2 gene in a 5-year-old child. This genetic defect was first described in 2019, and so far only 3 cases are known in the world with a similar pathology. Here we present the fourth clinical case and our experience in managing a patient with STAT2 GOF. The article presents the key aspects of the pathogenesis, clinical picture based on the analysis of all known cases of the disease. The absence of established criteria and methods of treatment for this disease is due to the rarity and relative novelty of the described nosology. We present the experience of treatment using a JAK kinase inhibitor, followed by an assessment of the effectiveness of the therapy and side effects. The patient's parents agreed to use the information, including the child's photo, in scientific research and publications.

X-linked agammaglobulinemia (XLA), or Bruton’s agammaglobulinemia, – is a primary immunodeficiency, caused by defects in the BTK gene encoding Bruton’s tyrosine kinase. The BTK defects lead to the arrest of B-lymphocyte development and, as a result, agammaglobulinemia. The disease manifests with recurrent infections starting in infancy. The gold standard of XLA treatment – intravenous or subcutaneous immunoglobulin substitution – proved effective in various multicenter studies and increases the quality of life of XLA patients. However, there are cases of delayed disease verification, and untimely delayed treatment, which leads to severe, recurrent infections and life-threatening conditions. We present a review of the literature and case report of an XLA patient with ecthyma gangrenosum. The patient's parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.

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The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 20 patients (9 boys, 11 girls) diagnosed with cryopyrin-associated periodic syndrome (CAPS) with an assessment of the efficacy and safety of therapy in 6 patients with an inhibitor of the interleukin-1 receptor – anakinra. The study was approved by the Independent Ethics Committee and the Scientific Council of the D. Rogachev NMRCPHOI. The patients' parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications. The age of CAPS manifestation ranged from 0 to 27.0 months (median – 2 months). The clinical manifestations were dominated by fever, rash, lesions of the central nervous system, musculoskeletal system. During the attack, all 20 patients had an increase acute phase proteins of blood. All patients had heterozygous mutation in the NLRP3 gene, with the highest frequency of localization in exon 3 (17/20). 6/20 patients were initiated on anakinra therapy. All 6 patients who have been treated of anakinra enough to assess the effect of the treatment, drastic improvement of the condition was noted, but only in 5/6 patients achieved full remission.