Background and Aims Common variable immunodeficiency (CVID) can affect quality of life (QoL) which can be better assessed with validated scales. Our goal was to validate the Turkish version of the Italian CVID-QoL questionnaire. Methods International recommendations for cultural adaptation and translation process of original scale was followed. CVID patients completed Turkish CVID-QoL questionnaire between October 2019 and January 2020. The Short Form Health Survey (SF-36) was used as a comparative questionnaire. Reliability, reproducibility, factor analysis, content validity, convergent validity and discriminant validity were analysed. Results 50 CVID patients were included in the study. 64 % of patients (n=32), the mean age of the patients was 36.68 ± 13.2 years, the median duration of disease was 52.5 months. The instrument had good internal consistency in 50 patients [Cronbach’s alpha: 0.92, emotional functioning (EF): 0.91, relational functioning (RF): 0.77]. It also revealed high reproducibility in 26 patients QoL global, intraclass correlation coefficient (ICC)= 0.80 (95 % CI 0.56 - 0.91); EF, ICC = 0.78 (95 % CI 0.51- 0.90); RF, ICC = 0.82 (95 % CI 0.59-0.92); Gastrointestinal and skin symptoms (GSS), ICC = 0.89 (95 % CI 0.76-0.95); (p <0.001, p <0.001, p <0.001, p <0.001). QoL global, EF and RF scores showed good convergent validity with similar subscales of SF-36. The number of infections within last 3 months had a significant impact on QoL global, EF and RF (p=0.038, p=0.045, p=0.028). Conclusions The Turkish version of CVID QoL scale has appropriate validity and reliability among Turkish patients with CVID.

Backgrounds: Heterogeneous clinical features of antibody deficiency (AD) may cause diagnostic delays. Calculated globulin (CG) (total protein minus albumin) has been proposed as a screening test to prevent morbidity due to diagnostic delays in AD. Our aim is to validate CG as a screening test in AD in Turkish adult patients by comparing its role with gamma globulin analysis in protein electrophoresis. Methods: Fifty serum samples were randomly collected for each level of CG from 1.5 to 2.5 mg/dl and tested for serum IgG, IgA, IgM levels and protein electrophoresis. Cut-off values predicting low IgG levels were calculated for electrophoretically determined gamma globulin and CG. Additionally, the data of 47 patients followed up in our clinic with a diagnosis of primary antibody deficiency (PAD) were retrospectively analyzed. Results: A total of 550 adult patients were included in the study. The CG value predicting patients with IgG <600 mg/dl as a screening test was determined as <2.0 with 83.8% sensitivity and 74.9% specificity. The gamma globulin value which predicted patients with the same IgG value of 89.0% sensitivity and 89.4% specificity was determined as <0.7. In the retrospective analysis, 37 of 47 patients (78.7%) with PAD had a CG value of <2.0 at the time of the diagnosis and all 13 patients (%100) whose gamma globulin values were measured at the time of the diagnosis had a gamma globulin value of <0.7. Conclusion: The determined CG cut-off value of <2.0 can be used as a screening test in Turkish adult patients.

Background: Knowledge on endothelial dysfunction and its relation to atherosclerosis in mastocytosis is limited. Aim: To investigate the endothelial function in mastocytosis by flow mediated dilatation (FMD) and biomarkers related to vascular endothelia, the presence of subclinical atherosclerosis by carotid intima media thickness (CIMT). Method: Forty-nine patients with mastocytosis and 25 healthy controls (HCs) were included. FMD and CIMT during transthoracic echocardiography, biomarkers including endocan, endothelin-1 (ET-1), vascular endothelial growth factor (VEGF) were measured in sera of participants. Tumor necrosis factor-alpha (TNF-α), interleukine-6 (IL-6) and high sensitive c-reactive protein (hsCRP) were determined as inflammatory biomarkers. Result: The mean FMD% was lower in the patients than HCs (11.26±5.85% vs 17.84±5.27% p<0.001) and was the lowest in the advSM and SSM group among the patients (p=0.03). The median value of VEGF was significantly higher in patients than HCs. [73.30 pg/mL; min-max (32.46-295.29) pg/mL vs (46.64 pg/mL; min-max 11.09-99.86 pg/mL; p:0.001] and it was the highest in the advSM and SSM group (p:0.01). FMD was inversely correlated with endocan (r:-.390, p:0.006), ET-1 (r:-.363, p:0.01) and VEGF (r:-.402, p:0.004) but there were no correlations between FMD and TNF-α, IL-6, and hsCRP. No differences in CIMT values between patients and HCs and no correlation between CIMT and the biomarkers were observed. Conclusion: Endothelial dysfunction in mastocytosis becomes evident with decreased FMD and elevated serum VEGF, in the absence of atherosclerosis or systemic inflammation and is related to disease severity. Keywords: CIMT, Endocan, Endothelial function, Endothelin-1, FMD, VEGF