Patients with a suspicion of non-Hodgkin lymphoma (NHL) represent a diagnostic challenge for clinicians, because they may present with a variety of symptoms. We present a series of 5 patients in whom persistent fever was one of the earliest symptoms of NHL.
Introduction The COVID-19 pandemic has changed many aspects of everyday life. Patients with primary immunodeficiency (PID) are in a particularly difficult situation. The purpose of the present study was to contribute to the very limited research on the everyday aspects of functioning in PID patients during the COVID-19 pandemic. Methods The survey included 85 adult PID patients treated with immunoglobulin replacement therapy in four reference centers for immunology. Everyday functioning of the patients as well as their opinion concerning new solutions in medical care were analyzed. Results During the pandemic, the percentage of patients experiencing fear/anxiety has increased from 47% to 70%. The wide dissemination of information about the SARS-CoV-2 in the media has increased anxiety in 40% of the patients. Patients diagnosed with PID were most afraid of the exposure to contact with strangers, especially in public places. As many as 67 respondents (79%) considered the introduction of restrictions concerning social functioning as good. Only every fifth person learned about the pandemic from reliable sources. Eighty three percent of the patients receiving immunoglobulin substitution experienced less fear of SARS-CoV-2 infection. The patients positively evaluated the solutions related to the direct delivery of drugs to the place of residence in order to continue home IgRT therapy. Fifty three respondents (62.5%) believed that the possibility of a remote consultation was a very good solution. Conclusion It is necessary to increase educational activities concerning the pandemic provided by health care professionals, as patients obtain information mainly from the media and the Internet, which adversely affects the feeling of anxiety. The pandemic, in addition to the very negative impact on patients and the deterioration of their daily functioning, has made patients appreciate their life more, devote more time to family and friends, and do things they like.
The majority of primary immunodeficiencies (PIDs) are antibody deficiencies (PADs), and not all of them are rare diseases; As an example, Caucasian individuals suffer from selective IgA deficiency at a frequency of 1:500. In addition to infections, symptomatic patients with PAD are more likely to develop neoplastic, autoimmune, and allergic diseases. In the event that PAD is neglected or delayed for more than ten years, complications develop, eventually resulting in death. No studies have been conducted to devise and report detailed ready-to-use protocols for managing PAD to date. This study aimed to propose protocols and guidelines for the adult PAD patients' standard care. Preparing the protocol, we considered the frequency and type of laboratory tests, imaging, endoscopic examinations, specialist consultations, and standardized recommendations for further care in the place of residence. As a result of the proposed monitoring scheme, patients can be provided with complete care in terms of their underlying conditions and comorbidities, as well as early detection of complications. This protocol will serve as a guide for physicians dealing with these patients and enable comparisons of patient groups across a variety of treatment centers, even far away from each other. A national consultant in the field of clinical immunology verified the protocol mainly developed by Polish experts from reference immunology centres for adults.
Primary antibody deficiencies (PAD) are inborn defects of the immune system that result in increased susceptibility to infections. Despite the reduced response to vaccination, PAD patients still benefit from it by reducing the risk of severe infections and complications. SARS-CoV-2 vaccines are recommended in PAD patients, but their immune effects are poorly studied. Here, we analyze virus-specific T-cell responses in PAD patients after booster vaccination against SARS-CoV-2.The study included 57 adult PAD patients on long-term immunoglobulin replacement therapy (IgRT) diagnosed with X-linked agammaglobulinemia (XLA; n = 4), common variable immunodeficiency (CVID; n = 33), isotype defects or IgG subclass deficiency (n = 6), and unclassified IgG deficiency (n = 14). Of those, 49 patients (86%) received vaccination against SARS-CoV-2 using mRNA vaccine (Pfizer-BioNTech). T-cell responses were assessed at a median of 21 (13 - 30) weeks after the booster dose (mainly the third dose) using commercially available interferon-gamma release assay (IGRA) with recombinant SARS-CoV-2 spike S1 protein.Vaccinated PAD patients showed an increased (3.8-fold, p = 0.004) release of IFN-γ upon S1 stimulation. In this group, we also documented higher serum levels of anti-SARS-CoV-2 IgG (4.1-fold, p = 0.01), although they were not associated with IGRA results. Further subgroup analysis revealed very similar IGRA responses in CVID and unclassified IgG deficiencies that were 2.4-fold increased compared to XLA and 5.4-fold increased compared to patients with isotype defects or IgG subclass deficiencies (e.g., vs. CVID: p = 0.016). As expected, CVID and XLA patients showed decreased serum titers of anti-SARS-CoV-2 antibodies compared to other studied groups (e.g., CVID vs. unclassified IgG deficiency: 4.4-fold, p = 0.006). The results did not depend directly on IgRT mode or dose, number of vaccine doses and time from the last booster dose, and clinical manifestations of PAD. Interestingly, anti-SARS-CoV-2 titers were positively correlated with serum immunoglobulin levels before IgRT (e.g., for IgA: r = 0.45, p<0.001; for IgG: r = 0.34, p = 0.009) and the percentage of peripheral blood NK cells (r = 0.48, p<0.001).Our results documented satisfactory in vitro cellular immune response in PAD patients after booster SARS-CoV-2 vaccination. Therefore, even patients with agammaglobulinemia should benefit from vaccination due to the apparent induction of cell-mediated immunity, which, together with IgRT, grants comprehensive protection against the pathogen.
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.
Background.In recent years, many novel myositis-specific autoantibodies (MSAs) have been identified.However, their links with the pathogenesis and clinical manifestations of inflammatory myopathies remain uncertain. Objectives.To characterize the population of adult dermatomyositis (DM) and polymyositis (PM) patients treated at our center for autoimmune diseases using clinical and laboratory measures. Materials and methods.According to the Bohan and Peter criteria, we retrospectively analyzed patients who fulfilled diagnostic criteria for DM or PM.Myositis-specific autoantibodies and myositis-associated autoantibodies (MAAs) were identified using immunoblot assays.Results.Fifty-one PM (71% women) and 36 DM (67% women) Caucasian patients with a median age of 58 (range: 21-88) years who met the definite or probable diagnostic criteria for myositis were included in the study.Myositis-specific autoantibodies were identified in 63 (72%) patients, whereas MAAs were observed in 43 (49%) of them.Interstitial lung disease (ILD) was characteristic of PM patients (67%, χ 2 with Yates's correction (χ c 2 ) = 13.8078,df = 1, p = 0.0002), being associated with anti-Jo-1 or anti-PL-12 antibodies (fraction comparison test (FCT) 6.4878, p < 0.0001, 6.8354, p = 0.0003, respectively).Interestingly, among patients with anti-MDA5 antibodies (n = 8, 9.2%), all but one had an amyopathic form, with more frequent ILD, skin changes and arthralgias than observed in other patients (FCT 4.7029, p = 0.0228 and p = 7.7986, p = 0.0357, p = 4.7029 and p = 0.0228, respectively).Anti-signal recognition particle (SRP) was strongly associated with the Raynaud's phenomenon (FCT 4. 1144, p = 0.0289) and the highest muscle injury markers (Mann-Whitney U test, z = 2.5293, p = 0.0114).Malignancy was recorded in 14 (16%) patients and was equally common in those with PM and DM.The anti-TIF-1γ was the most frequently related to cancer χ 2 = 14.7691, df = 1, p < 0.0001).The anti-Mi-2α, similarly prevalent in DM and PM, was typically accompanied by skin changes (FCT 7.7986, p = 0.0357) but not ILD (FCT 8.7339, p = 0.0026). Conclusions.Identification of MSAs might help to predict the clinical course of the autoimmune myopathy and malignancy risk.However, these antibodies were absent in about 30% of patients with typical PM or DM manifestations, which encourages further research in this area.
ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Bazan-Socha S, Gradzikiewicz A, Celińska-Lowenhoff M, Matyja-Bednarczyk A, Maciołek A, Bąbol-Pokora K. Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib. Central European Journal of Immunology. 2022;47(1):92-94. doi:10.5114/ceji.2022.114884. APA Bazan-Socha, S., Gradzikiewicz, A., Celińska-Lowenhoff, M., Matyja-Bednarczyk, A., Maciołek, A., & Bąbol-Pokora, K. (2022). Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib. Central European Journal of Immunology, 47(1), 92-94. https://doi.org/10.5114/ceji.2022.114884 Chicago Bazan-Socha, Stanisława, Ada Gradzikiewicz, Magdalena Celińska-Lowenhoff, Aleksandra Matyja-Bednarczyk, Anna Maciołek, and Katarzyna Bąbol-Pokora. 2022. "Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib". Central European Journal of Immunology 47 (1): 92-94. doi:10.5114/ceji.2022.114884. Harvard Bazan-Socha, S., Gradzikiewicz, A., Celińska-Lowenhoff, M., Matyja-Bednarczyk, A., Maciołek, A., and Bąbol-Pokora, K. (2022). Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib. Central European Journal of Immunology, 47(1), pp.92-94. https://doi.org/10.5114/ceji.2022.114884 MLA Bazan-Socha, Stanisława et al. "Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib." Central European Journal of Immunology, vol. 47, no. 1, 2022, pp. 92-94. doi:10.5114/ceji.2022.114884. Vancouver Bazan-Socha S, Gradzikiewicz A, Celińska-Lowenhoff M, Matyja-Bednarczyk A, Maciołek A, Bąbol-Pokora K. Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib. Central European Journal of Immunology. 2022;47(1):92-94. doi:10.5114/ceji.2022.114884.
Common variable immunodeficiency (CVID) is the most clinically significant primary antibody immunodeficiency recognized in adulthood. Previously published data have shown a diagnostic delay of up to an average of 10 years for Polish adult patients with CVID. In the current study, we aimed to analyze the current diagnostic delay of adult patients with CVID in Poland. To this end, we identified patients from four immunological centers specializing in the care of adult patients with primary immunodeficiencies (PID). Demographic and clinical data of patients were collected using an internet database. We identified 103 adult patients (F:M 44.7%:55.3%) in Poland with CVID. The median age at onset of symptoms was 24 (0–66), 33 (4–70) at diagnosis, and 37 (18–73) years at the time of analysis. The median diagnostic delay for the entire study population was 6 (0–57) years. However, this delay was higher in patients with symptom onset before the year 2000 than after the year 1999 (15 (0–57) vs. 3 (0–19) years; p 6 years, N = 50) with long diagnostic delay (LDD), the LDD group had a statistically significant higher incidence of infections of the lower respiratory tract before diagnosis (90.0% vs. 71.70%). During the entire observation period, cytopenias (44.00% vs. 22.64%), granulomatous lesions (28.00% vs. 11.32%), and solid tumors (14.00% vs. 1.89%) were significantly more frequent in the LDD group. In conclusion, we found a significant reduction in the median diagnostic delay in Polish CVID patients with disease onset in the two last decades.
Introduction Primary immunodeficiencies (PIDs) are clinically heterogeneous disorders caused by abnormalities in the immune system. However, PIDs are genetically determined and may occur at any age from early childhood to elderly age. Due to chronic patterns, the risk of malignancy and organ damage in patients with PIDs may affect any aspect of life, including sleep patterns. To our knowledge, the prevalence of insomnia and subjective sleep quality have not been investigated in patients with PIDs. Therefore, this pilot study was conducted to investigate sleep quality, the prevalence of sleep disturbances, and fatigue in adult patients with PIDs in Poland. Methods All participants were surveyed using the Athens Insomnia Scale, Pittsburgh Sleep Quality Index, Fatigue Severity Scale, and a questionnaire concerning general health and demographic data. We included 92 participants: 48 women (52.2%) and 44 men (47.8%). Results Participants’ mean age was 41.9 ± 13.9 years. The mean sleep duration was 7.0 ± 1.5 hours, and the mean sleep latency was 41.2 ± 53.1 minutes. Additionally, 44.6% of patients (n=41) had symptoms of insomnia and 44.6% (n=42) had poor sleep quality. Less than one-fourth (n=22; 23.9%) of the patients reported the use of sleeping pills; moreover, clinically significant fatigue was reported in 52.2% (n=48). Discussion Our investigation provides insight into the problem of sleep disturbances in patients with PIDs. Data have demonstrated that sleeping disorders with concomitant fatigue are common in patients with PID. Further studies are needed to determine the determinants of poor sleep quality in this specific group of patients.
