Cogan sendromu, ender görülen, nedeni bilinmeyen, özellikle görme ve işitmeyi etkileyen inflamatuvar bir hastalıktır. İnterstisyel keratit ve işitme kaybı bulguları ile karakterize olup, orta ve büyük damarları etkileyen vaskülitler tabloya eşlik edebilir. Bu olgu sunumunda, kliniğimize görme ve işitme yakınmaları ile başvurmuş ve Cogan sendromu tanısı almış 14 yaşında bir erkek hasta sunulmuştur.

<b><i>Introduction:</i></b> Primary immunodeficiencies are a heterogeneous group of diseases associated with an increased incidence of infections, autoimmunity, autoinflammatory diseases, allergies, and cancer. Rhinosinusitis is one of the most common infections in these patients. In our study, we aimed to determine the presence of chronic rhinosinusitis in our patients with primary immunodeficiency and to investigate the etiology of chronic rhinosinusitis. <b><i>Methods:</i></b> Forty-four patients (age range: 4–26 years) diagnosed with primary immunodeficiency were enrolled in our study. Patients were interviewed about the symptoms of chronic rhinosinusitis, and nasal endoscopic examinations were performed prospectively. The results of laboratory tests, medications, skin allergy tests, and the patients’ lung computed tomography were retrospectively recorded from patient files. <b><i>Results:</i></b> The distribution of patients’ diagnoses included 38.6% (<i>n</i> = 17) primary antibody deficiencies, 6.6% (<i>n</i> = 3) combined immunodeficiencies, 27.3% (<i>n</i> = 12) combined immunodeficiencies with syndromic features, 6.8% (<i>n</i> = 3) phagocytic disorders, and 20.5% (<i>n</i> = 9) immune dysregulation disorders. There was no significant difference in the frequency of chronic rhinosinusitis among the different immunodeficiency groups. There were no significant differences between chronic rhinosinusitis and conditions such as atopy, hypogammaglobulinemia, and treatments with immunoglobulin and/or azithromycin. The incidence of chronic rhinosinusitis was 77.8% (<i>n</i> = 7) in patients with a history of acute sinusitis and 20% (<i>n</i> = 7) in patients without a history of sinusitis, with a statistically significant difference between them (<i>p</i> = 0.002). <b><i>Conclusion:</i></b> Chronic rhinosinusitis is more common in patients with primary immunodeficiencies than in the normal population. For effective treatment, it is necessary to identify the factors that cause chronic rhinosinusitis. Further studies involving larger patient populations are needed to explain the mechanisms of chronic rhinosinusitis.

Inborn errors of immunity include multiple genetic abnormalities affecting different components of the innate and adaptive immune systems. More than 450 genes have been described so far including DNA repair defects which may result in predisposition to infections, but also malignancies, neurologic abnormalities and growth retardation. The group of patients with DNA repair and methylation defects exhibit impaired adaptive immunity, which increases susceptibility to infections due to impaired repertoire diversity. In this context, we aimed to investigate the TCRvβ repertoire and its interaction with clinical entities in a group of IEI patients with DNA repair defects including ATM, DCLRE1C, DNA-PRKDC, DNA ligase-4, and BLM. Thirty-nine patients with evidence of DNA repair defects and radiosensitivity and 15 age-matched healthy controls were included in this study. Peripheral lymphocyte subset and TCR-vβ repertoire analyses were performed by flow cytometry. To contrast TCR-repertoire in patients with DNA repair defects to healthy controls, we extracted data on lymphocyte phenotype, thymic function, immunoglobulins, and analysis of the TCRvβ repertoire from a prior study. The entire TCR-vβ repertoire was detected in all patients. However, compared with the control group, 9 of 24 clones (37.5%) were statistically significantly lower, whereas only 3 clones had high levels (p < 0.05). In addition, 62.5% of all clones had lower values than the control group. Some unique vβ clones have been associated with some clinical entities. Clonotypes associated with infections, autoimmunity and lymphoid proliferation were detected in the patient group. Lower TCR-vβ-9 and TCR-vβ23, higher TCR-vβ7.2 were detected in the patients with pneumonia (n = 13) (respectively p = 0.018, p = 0.044 p = 0.032). In addition, AT patients with pneumonia (n = 10) had a lower TCR-vβ-9 clone than patients without pneumonia (n = 25) (p = 0.008). In summary, we observed skewed clonal proliferation of most TCR-vβ clones in DNA repair defects, especially AT. In addition, our study demonstrated that some TCR-vβ clones might be predictive of some clinical entities. To further investigate the impact of the diversity of the TCR repertoire on the clinical phenotype, future studies should focus on the analysis of naïve and memory T cells, the detection of the source of oligoclonality, and the relationship between clonality and clinical entities.

mRNA vaccines, particularly, have been associated with an increased risk of allergic reactions and rarely anaphylaxis. Although rare, vaccine reactions can cause significant anxiety and fear in the population, leading to indecision and vaccine refusal. This study aimed to retrospec-tively evaluate the role of polyethylene glycol (PEG) sensitivity in vaccination decision-making in pediatric patients at high risk of allergy or with suspected allergic reactions to the first dose of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) vaccine. Seventeen enrolled patients were found to have decreased readiness to receive the Coronavirus Disease 2019 (COVID-19) vaccine after developing hypersensitivity to multiple and/or injectable drugs. Skin testing was performed. A basophil activation test with PEG-2000 and 4000 was performed on three patients who were ineligible for skin prick tests. Nine patients with nega-tive tests received the vaccine without complications. One patient had urticarial angioedema despite negative tests. Three patients with positive tests did not agree to desensitization with the mRNA vaccine, and one of them was vaccinated with the inactivated COVID-19 vaccine. Four patients recurred despite negative tests. The general recommendation for patients describing severe reactions to drugs, foods, and allergens, such as toxins that do not contain the adjuvants of the SARS-CoV-2 vaccines, is to be routinely vaccinated with safety precautions. Excipients such as PEG and polysorbate-80 used in COVID-19 vaccines could be potential allergens, but this hypothesis is unclear. The predictive values of these adjuvants for skin testing and in vitro testing are controversial. Further research is needed on the hypersensitivity reactions of adjuvants, the predictive values of skin tests, and etiopathogenesis.

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