Inborn errors of immunity (IEI), formerly known as primary immunodeficiency disorders (PIDs), are inherited disorders caused by damaging germline variants in single genes, which result in increased susceptibility to infections and in allergic, autoimmune, autoinflammatory, nonmalignant lymphoproliferative, and neoplastic conditions. Along with well-known warning signs of PID, attention should be paid to signs of immune dysregulation, which seem to be equally important to susceptibility to infection in defining IEI. The modern diagnostics of IEI offer a variety of approaches but with some problems. The aim of this review is to discuss the diagnostic challenges in IEI patients in the context of an immune dysregulation background.

Background: Data regarding the course of SARS-CoV-2 infection in children with primary immunodeficiency (PID) is insufficient. The purpose of the study was to evaluate the morbidity and clinical course of COVID-19 and the ability to produce anti-SARS-CoV-2 IgG antibodies in children with PID. Methods: In this retrospective study, medical records of 99 patients aged 0–18 were evaluated. The patients were divided into three groups: PID group (68.69%), control group (19.19%) and patients with ongoing or previous paediatric inflammatory multisystem syndrome (12.12%). Data such as morbidity, clinical outcome, and IgG anti-SARS-CoV-2 antibody titres were assessed. Results: A confirmed diagnosis of SARS-CoV-2 infection has been established in 26.47% of patients with PID. Among patients with PID infected with SARS-CoV-2, only three cases were hospitalised. Mortality in the PID group was 0%. Throughout an observation period of 1 year, 47.06% of patients with PID were tested positive for the anti-SARS-CoV-2 antibody. Conclusions: In the study group, in most cases the disease had a mild and self-limiting course. Remarkably, even though IgG deficiency was the most prevalent form of PID in the study group, the patients were able to respond satisfactorily to the infection in terms of anti-SARS-CoV-2 IgG.

The dynamic development of clinical immunology in Europe began in mid 1980s, and was continued in Poland shortly thereafter. In 1993 the first national consultant in the field of clinical immunology was appointed in Poland. A milestone was the establishment of the Polish Working Group for Primary Immunodeficiencies (PGR for PID) in 2005. Since then, a network of numerous paediatric and internal medicine centres has been created within the Group, facing and resolving new challenges in the field. The study presents the organization of care for patients with primary and secondary immunodeficiencies in Poland, analyzes the staffing situation and patients' access to diagnostics and treatment between late 1980’s and 2024. The summary presents the achievements resulting in improved diagnostic efficiency, shortening the delay in the diagnosis of Inborn Errors of Immunity (IEI)/primary immunodeficiencies (PID), and better access of patients to therapy within drug programs, largely carried out at home. The causes hindering the development of specialization are also analyzed. The most important among them are the lack of systemic support on the part of medical care organizers and the lack of motivation of young doctors to pursue specialization. The main goal is to improve diagnostic and therapeutic procedures for PID patients, including newborn screening, highly specialized, genetic test regardless where they are implemented. It can be only achieved with their better financing. An essential problem is the lack of an epidemiological or clinical IEI registry.

The study deals with the examination of the metabolic activity of neutrophils tested with spontaneous and stimulated (fMLP, PMA, Zymosan) chemiluminescence (CL) in children with type 1 diabetes depending on their clinical conditions. We examined 87 children with type 1 diabetes from 4 to 21 years (52 girls and 35 boys, mean age – 13 years). Due to their clinical conditions, the patients were divided into three subgroups: patients in good condition (25 children), patients in mediocre condition (54 children), and patients in severe condition (8 children). The control group consisted of 23 persons – healthy volunteers from 20 to 25 years old (mean age – 23 years). We estimated the maximum levels of chemiluminescence (CLmax) with a luminometer (Microlumat LB 96P of E&G Barthold), the results were given in RLU/s. We found decreased oxide metabolism of neutrophils in patients with diabetes in all clinical conditions, both spontaneous and stimulated compared to the control group. The lowest values of neutrophil chemiluminescence were in children in mediocre condition.

Background: Allergy is a clinical condition that reflects a deviated function of the immune system. The purpose of this study was to evaluate serum allergen-specific IgE (sIgE) along with clinical manifestations of allergy in patients with diagnosed primary immunodeficiency (PID). Methods: 72 patients, aged 1–17 years, diagnosed with PID and hospitalized between July 2020 and February 2021 were included in the study. Blood samples were obtained by venipuncture. sIgE (30 allergens), blood eosinophil count, as well as total IgE and IgG were measured and assessed in relation to a detailed medical examination. Results: Serum sIgE was detected in the blood of 50% of the patients in the study group, which significantly correlated (p < 0.0001) with clinical symptoms of allergy. During the period of the study, 61.1% of the patients showed symptoms of allergy, with 77.27% of them having tested positive for sIgE. The total IgE level was elevated in 18.06% of the patients and correlated with clinical symptoms of allergy (p = 0.004). An elevated total IgE level was not observed in children receiving immunoglobulin replacement therapy. Conclusion: The study showed that serum sIgE and total IgE together might be a plausible diagnostic tool for PID patients. However, for patients receiving immunoglobulin replacement therapy, the assessment of total IgE is not useful.

Background: In the last days of December 2020, the SARS-CoV-2 virus vaccine BNT162b2 (Comirnaty, Pfizer-BioNTech) was introduced, for the first time, for wide use in Poland. According to the vaccination schedule, healthcare workers were the first to receive the vaccine. The aim of this study was to analyse the attitudes of those who were determined to be vaccinated, with particular reference to their concerns, attitudes towards vaccination advocacy and sources of knowledge on vaccination, as well as the incidence of adverse reactions. Methods: The study had a three-stage design. Respondents completed a self-administered questionnaire before receiving the 1st and 2nd vaccine doses and 2 weeks after receiving the 2nd dose. A total of 2247 responses were obtained (1340 responses in the first stage, 769 in the second and 138 in the third). Results: The main source of knowledge on vaccination was the Internet (32%; n = 428). Of the respondents, 6% (n = 86) reported anxiety before the 1st dose of the vaccine, which increased to 20% (n = 157) before the 2nd dose. A declaration of willingness to promote vaccination among their families was made by 87% (n = 1165). Among adverse reactions after the 1st dose of the vaccine, respondents most frequently observed pain at the injection site (n = 584; 71%), fatigue (n = 126; 16%) and malaise (n = 86; 11%). The mean duration of symptoms was 2.38 days (SD 1.88). After the 2nd dose of vaccine, similar adverse reactions—pain at the injection site (n = 103; 75%), fatigue (n = 28; 20%), malaise (n = 22; 16%)—predominated among respondents. Those who declared having had a SARS-CoV-2 virus infection (p = 0.00484) and with a history of adverse vaccination reactions (p = 0.00374) were statistically more likely to observe adverse symptoms after vaccination. Conclusions: Adverse postvaccinal reactions are relatively common after Comirnaty vaccination but are usually mild and transient in nature. It is in the interest of public health to increase the knowledge of vaccine safety.