Respiratory syncytial viral infection in a child with genetic pathology

The relevance of respiratory syncytial virus infection is due to its widespread, severity of the course in young children with a predominant lesion of the lower respiratory tract with acute respiratory failure and absence of etiotropic therapy with proven efficacy. The risk group for severe course and mortality is made up of premature babies, children with bronchopulmonary dysplasia, hemodynamically significant congenital heart disease. In addition, according to individual indications, by the decision of the council, specific prophylaxis is carried out for newborns and premature infants with severe neuromuscular pathology, CNS injury with impaired respiratory function, patients with congenital anomalies and genetic pathology of the respiratory system, as well as congenital immunodeficiency. The article presents a description and analysis of the severe course of respiratory syncytial infection with the development of obstructive bronchitis with respiratory failure of the 2nd degree in a child aged 1 year 4 months with Charge syndrome – a severe genetic pathology, including combined congenital heart disease, choanal artesia, protein-energy malnutrition, congenital immunodeficiency. The child had bronchopulmonary dysplasia, chronic paralytic laryngeal stenosis. The disease required oxygen support and the patient's stay in the intensive care unit. The described clinical example demonstrates a severe course of respiratory syncytial virus infection with the damage of the lower respiratory tract in a child over one year old from the risk group. Key words: respiratory syncytial virus infection, children, obstructive bronchitis, bronchiolitis

Aberrant CXCR4 Signaling at Crossroad of WHIM Syndrome and Waldenstrom’s Macroglobulinemia

Given its pleiotropic functions, including its prominent role in inflammation, immune responses and cancer, the C-X-C chemokine receptor type 4 (CXCR4) has gained significant attention in recent years and has become a relevant target in drug development. Although the signaling properties of CXCR4 have been extensively studied, several aspects deserve deeper investigations. Mutations in the C-term tail of the CXCR4 gene cause WHIM syndrome, a rare congenital immunodeficiency associated by chronic leukopenia. Similar mutations have also been recently identified in 30% of patients affected by Waldenstrom’s macroglobulinaemia, a B-cell neoplasia with bone marrow accumulation of malignant cells. An ample body of work has been generated to define the impact of WHIM mutations on CXCR4 signaling properties and evaluate their role on pathogenesis, diagnosis, and response to therapy, although the identity of disease-causing signaling pathways and their relevance for disease development in different genetic variants are still open questions. This review discusses the current knowledge on biochemical properties of CXCR4 mutations to identify their prototypic signaling profile potentially useful to highlighting novel opportunities for therapeutic intervention.

Wybrane problemy dermatologiczno-ginekologiczne z uwzględnieniem niektórych aspektów dietetycznych u dziewcząt

Dermatological-gynaecological problems in girls are an important issue also in the practice of a family doctor. In the case of girls before menarche, vulvovaginal inflammation accounts for 75% of all gynaecology reports. However, there is a need to differentiate inflammatory diseases of the vulva from dermatoses. Symptoms of vulval diseases, which are reported by patients, often require consultation and dermatological treatment. Since dermatoses are not limited to genitals, the vulva is only one of possible locations of the disease process; therefore, the whole skin of the patient should be inspected. Vaginal and vaginal inflammation is a gynaecological problem in patients of all ages ? from neonatal period to old age. In developmental age gynaecology, it is often found in 3-10-year-old patients. The etiopathogenesis of vulvovaginitis in girls depends on child's age, systemic diseases, and often dermatological problems. For example, such factors as diabetes, long-term antibiotic therapy, immunosuppression, congenital immunodeficiency, allergic diseases and allergic rhinitis predispose to infections in girls. Lactobacillus plays an important role in bacterial protection against infection and inflammation. A balanced diet is also important.

Preimplantation genetic testing for inherited immunodeficiency

Preimplantation genetic testing (PGT) has become a practical tool for at risk couples to avoid affected pregnancies and have a healthy progeny free from genetic and chromosomal disorders. PGT is also an option for stem cell transplantation treatment through combining PGT with preimplantation HLA typing for couples with children affected by congenital disorders, for whom no other alternative therapies are available, such as for congenital immunodeficiency. We present here our experience of 135 PGT cycles performed for 74 couples at risk for producing offspring with 18 different congenital immunodeficiencies, resulting in birth of 54 healthy children free from inherited immunodeficiency, which is one of the world’s largest PGT series for immunodeficiency.