Members of the interleukin-1 (IL-1) family are implicated in the pathogenesis of sarcoidosis and idiopathic pulmonary fibrosis (IPF). We have, therefore, performed a case-control study to investigate a plausible association between sarcoidosis and the polymorphisms in the IL-1alpha, IL-1beta, and IL-1 receptor antagonist (IL-1Ra) genes. Further, as a separate question, we explored whether the aforementioned genes of the IL-1 cluster are associated with IPF. Using PCR with sequence-specific primers, IL-1alpha -889, IL-1beta -511, IL-1beta +3953, and IL-1Ra intron 2 VNTR polymorphisms were determined in 348 white subjects of West Slavonic ancestry (95 patients with sarcoidosis, 54 patients with IPF, and 199 healthy control subjects). The IL-1alpha -889 1.1 genotype was significantly overrepresented in patients with sarcoidosis in comparison with control subjects (60.0 versus 44.2%, p = 0.012, p(corr) = 0.047). The distribution of IL-1beta -511, IL-1beta +3953, and IL-1Ra VNTR genotypes and alleles did not significantly differ between the cases and controls. No association between IPF and the investigated polymorphisms was found. Strong linkage disequilibrium between pairs of polymorphic loci was observed. Further population studies are warranted to confirm the observed association between sarcoidosis and the IL-1alpha polymorphism and also to explore mechanisms of IL-1alpha -889 participation in aberrant immune response in sarcoidosis.
Sarcoidosis is a granulomatous disorder showing a clear association with MHC (HLA) class I and class II genes. In order to investigate whether polymorphisms of nearby pro-inflammatory genes located within the MHC class III region may also contribute to susceptibility to sarcoidosis or to its clinical manifestation, tumour necrosis factor-alpha (TNF-alpha) and lymphotoxin-alpha (LT-alpha) genes were chosen for analysis in a case-control association study. In order to evaluate the findings on the TNF-alpha and LT-alpha genes in connection with the closely linked MHC class II region, 'classical' HLA-DRB1 locus was also investigated. Polymerase chain reaction-based methodologies were used in order to characterize two single-nucleotide polymorphisms (TNF-308*G/A and LTAlpha+252*A/G) and HLA-DRB1 allele groups in 114 Czech patients with pulmonary sarcoidosis and 425 healthy controls. LTA+252*G and HLA-DRB1*13 allele carriers were more frequent in patients, compared to those in controls. By contrast, HLA-DRB1*07 carriers were less frequent among sarcoidosis patients. The overrepresentation of TNF-308*A, LTAlpha+252*G and HLA-DRB1*03 allele carriers was found in a subgroup of sarcoidosis patients presenting with Lofgren's syndrome (LS) by comparison with the subgroup of patients without LS (NLS; phenotype frequency LS vs NLS: 68.8 vs 37.1% for TNF-308*A, 93.8 vs 66.3% for LTA+252*G and 68.8 vs 21.3% for DRB1*03). The data suggest that the LTAlpha and HLA-DRB1 genes themselves or a gene located nearby contributes to the susceptibility to sarcoidosis and that TNF-308*A, LTA+252*G and HLA-DRB1*03 alleles are associated (directly or via linkage with unknown causative locus) with LS as a specific manifestation of the disease.
Surface-enhanced laser desorption/ionization-time-of-flight mass spectroscopy enables determination of protein patterns in sarcoid BALF and allows detection of protein patterns linked to a particular disease course.
Despite the progress in the understanding how COVID-19 infection may impact immunocompromised patients, the data on inborn errors of immunity (IEI) remain limited and ambiguous. Therefore, we examined the risk of severe infection course and hospital admission in a large cohort of patients with IEI. In this multicenter nationwide retrospective survey-based trial, the demographic, clinical, and laboratory data were collected by investigating physicians from 8 national referral centers for the diagnosis and treatment of IEI using a COVID-19-IEI clinical questionnaire. In total, 81 patients with IEI (including 16 with hereditary angioedema, HAE) and confirmed SARS-CoV-2 infection were enrolled, and were found to have a 2.3-times increased (95%CI: 1.44–3.53) risk ratio for hospital admission and a higher mortality ratio (2.4% vs. 1.7% in the general population). COVID-19 severity was associated with the presence of clinically relevant comorbidities, lymphopenia, and hypogammaglobulinemia, but not with age or BMI. No individuals with HAE developed severe disease, despite a hypothesized increased risk due to perturbed bradykinin metabolism. We also demonstrated a high seroconversion rate in antibody-deficient patients and the safety of anti-spike SARS CoV-2 monoclonal antibodies and convalescent plasma. Thus, IEI except for HAE, represent significant risk factors for a severe COVID-19. Therefore, apart from general risk factors, immune system dysregulation may also be involved in the poor outcomes of COVID-19. Despite the study limitations, our results support the findings from previously published trials.
Sandblasting is traditionally known as a high-risk profession for potential development of lung silicosis. Reported is a case of a sandblaster with confirmed accelerated silicosis, a condition rather rarely diagnosed in the Czech Republic. Initially, the patient presented with progressive dry cough and exertional dyspnoea. In the early diagnostic process, a possible occupational aetiology was considered given his occupational history and known high-risk exposure to respirable silica particles confirmed by industrial hygiene assessment at the patient’s workplace. The condition was confirmed by clinical, histological and autopsy findings. The patient died during lung transplantation, less than five years from diagnosis.
The hypothesized importance of coinfections in the pathogenesis of post-treatment Lyme disease syndrome (PTLDS) leads to the use of combined, ongoing antimicrobial treatment in many cases despite the absence of symptoms typical of the presence of infection with specific pathogens. Serum samples from 103 patients with suspected post-treatment Lyme disease syndrome were tested for the presence of antibodies to the major tick-borne pathogens Anaplasma phagocytophilum, Bartonella henselae/Bartonella quinatana, and Babesia microti. Although the presence of anti-Anaplasma antibodies was detected in 12.6% of the samples and anti-Bartonella antibodies in 9.7% of the samples, the presence of antibodies against both pathogens in the same samples or anti-Babesia antibodies in the selected group of patients could not be confirmed. However, we were able to detect autoantibodies, mostly antinuclear, in 11.6% of the patients studied. Our results are in good agreement with previously published studies showing the presence of a wide spectrum of autoantibodies in some patients with complicated forms of Lyme disease and post-treatment Lyme disease syndrome, but they do not reveal a significant influence of co-infections on the development of PTLDS in the studied group of patients.
IntroductionOmalizumab is indicated for the treatment of severe allergic asthma (SAA) and chronic spontaneous urticaria, although a number of studies have confirmed the effectiveness of this therapy also for other IgE-mediated diseases.AimTo assess the impact of anti-IgE therapy on SAA and comorbid IgE-mediated allergic diseases in patients treated with omalizumab for SAA enrolled in the CAR (Czech Anti-IgE Registry).Material and methodsThree hundred and ten patients with SAA treated with omalizumab were enrolled in the CAR. Two hundred and twenty-nine individuals were evaluated after 12 months of omalizumab treatment for asthma control test (ACT), examination of fractional exhaled nitric oxide (FENO), forced expiratory volume in 1 s (FEV1), the use of systemic corticosteroids, side effects of treatment and clinical effect of omalizumab on allergic comorbidities (allergic rhinitis, chronic urticaria, atopic dermatitis and food allergy).ResultsAfter 12 months of treatment with omalizumab, patients experienced a significant improvement of ACT and FEV1, reduction of FENO, use of systemic corticosteroids for asthma exacerbations and dose of maintenance oral corticosteroid therapy. The positive effect of treatment with omalizumab was observed in 82.2% of patients with allergic rhinitis, in 85.7% of patients with chronic urticaria, in 82.1% of patients with atopic dermatitis, and in 67.3% of patients with food allergy.ConclusionsIn the CAR registry, patients with SAA treated with omalizumab showed a significant positive effect of anti-IgE therapy not only on the asthma control, but also on allergic comorbidities.
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