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Elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) was given US Food and Drug Administration approval based on its therapeutic benefits to treat patients with cystic fibrosis (CF) who had at least 1 allele of the CF transmembrane conductance regulator (CFTR) with phenylalanine deleted at position 508 (F508del). The increase in genotyping studies has increased the frequency of use of CFTR modulators; however, severe allergic reactions to CFTR modulators have also been described. It is critical to avoid the offending medication and select alternative treatments while dealing with drug allergies. Drug desensitization may be taken into consideration in situations where there is no other option. This article describes home desensitization treatment for a patient with CF who developed a maculopapular rash following CFTR modulator medication. There are currently no alternative drugs for CFTR modulators, which are crucial for patients with CF, and limited experience is available with allergic reactions to these drugs. It is important to establish desensitization protocols in order to control drug reactions to CFTR modulators, which are vital for individuals with CF. [ABSTRACT FROM AUTHOR]

OBJECTIVE: To compare class I/II cystic fibrosis transmembrane conductance regulator (CFTR) mutations to class III-V mutations with regards to cystic fibrosis disease severity markers in children. MATERIAL AND METHODS: This study was designed as a cross-sectional study in Antalya province, located on the south coast of Turkey. The study included 38 cystic fibrosis patients aged between 0.6 and 18 years. The CFTR genotype of the patients was categorized into 2 groups based on the presence or absence of class I or class II mutations in any of the alleles. Group I comprised 8 homozygous, 8 with unknown alleles, and 8 compound heterozygous patients, and group II comprised 11 homozygous and 3 compound heterozygous patients. The groups were analyzed in respect of cystic fibrosis disease severity markers, such as spirometry, ShwachmanKulczycki score, body mass index (BMI), sweat chloride concentration, chronic Pseudomonas aeruginosa infection, annual exacerbation frequency, and severe exacerbations requiring hospitalization during the previous year. RESULTS: In the comparison of group I and group II patients, a significant difference was observed in pancreas insufficiency (83.3% vs. 35.7%; P = .005), chronic P. aeruginosa infection (58.3% vs. 7.1%; P = .002), cough severity score (1.7 ± 1.1 vs. 0.9 ± 1.5; P = .029), number of severe exacerbations requiring hospitalization during the previous year (0.9 ± 1 vs. 0.3 ± 0.8; P = .03), and sweat chloride levels (76.7 ± 15.2 vs. 61 ± 22.3; P = .02). All these values were higher in group I patients. The mean BMI values (15.8 ± 2.2 vs. 17.6 ± 2.8; P = .03) were lower in group I patients. CONCLUSION: There seems to be a difference between class I/II CFTR mutations and class III-V mutations on the severity of the disease in cystic fibrosis patients. [ABSTRACT FROM AUTHOR]

Background/aim: Since January 2015, the Cystic Fibrosis Newborn Screening (CFNS) program has been implemented in Turkey. We aimed to evaluate the demographic, clinical, and laboratory data of cases referred from the CFNS program and to determine the most suitable cut-off value for immunoreactive trypsinogen (IRT)-1 and immunoreactive trypsinogen (IRT-2) that are used in the CFNS program in Turkey. Materials and methods: A total of 156 Turkish Caucasian subjects were determined as positive cases during 3 years, from January 2015 to January 2018, and were referred to the pediatric pulmonology clinics of Akdeniz University Hospital, Antalya, Turkey, for the national CFNS program. The evaluation was made considering the IRT-1 and IRT-2 values, demographic characteristics, sweat test results, CFTR genotypes, and diagnoses. Results: Nine patients were diagnosed with cystic fibrosis (CF). Eight were diagnosed with CF-related metabolic syndromes and three were determined to be CF carriers. The ratio of CF to CF-related metabolic syndrome was determined as 1.1:1. Considering the limits of the present CFNS program and the IRT method, the positive predictive value (PPV) for the referred cases was determined as 5.8%. When a cut-off value of 105.6 ng/mL was taken for IRT-1, sensitivity was 100%, specificity was 59%, and PPV was 12.8%. For a cut-off value of 88.75 ng/mL for IRT-2, sensitivity was determined as 90%, specificity as 65%, and PPV as 15.2%. Conclusion: This is the first detailed clinical study to evaluate the data from the CFNS program along the Mediterranean coast of Turkey. As false positive results are extremely high in Turkey, there is an urgent need for revision of the IRT-1 and IRT-2 limits by evaluating the data of the whole country. [ABSTRACT FROM AUTHOR]

Background/aim: We aimed to apply a double-blind placebo-controlled food challenge (DBPCFC) test to patients who reported a reaction to banana and showed positivity for banana-specific IgE in Turkey. Materials and methods: Medical data of patients who had been analyzed for banana allergy were reviewed, focusing on banana-specific IgE positivity at the Department of Pediatric Allergy-Immunology at the Akdeniz University Faculty of Medicine between the years 2004 and 2012. Patients were called to the clinic for a DBPCFC test. Results: A total of 47 patients participated. We determined reactions in 13% of DBPCFC patients. A cut-off value was determined as 0.66 kU/L for banana-specific IgE, and sensitivity and specificity were 83% and 51%, respectively. The positive predictive value for specific IgE was 20% while the negative predictive value was 96%. Sensitivity and specificity for banana prick-to-prick test (P + P) was 33% and 93%, respectively; positive predictive value was 40% and negative predictive value was 91%. Conclusion: This is the first study conducted in Turkey to use a DBPCFC test in the diagnosis of banana allergy. Up until now, the positive predictive value was not defined for banana-specific IgE. Our study showed that specific IgE or skin tests alone are not adequate for the diagnosis of food allergy; to define subjective symptoms related to food and to determine cross-reactions, DBPCFC tests should be done for confirmation. [ABSTRACT FROM AUTHOR]

Objective: The aim of study is to determine the clinical features of our patients with primary immunodeficiency in a region of eastern Turkey. Materials and Methods: The medical records with primary immunodeficiency (PID) who were followed ornewly diagnosed in Atatürk University School of Medicine and Erzurum Regional Training and Research Hospital Department of Pediatric Immunology and Allergy between June2013and)une2015 were evaluated retrospectively. Results: Totally 100 patients were followed in our center. Antibody deficiency was seen in 80% of patients while other immunodeficiencies were phagocytic system defects in 6%, severe combined immunodeficiency in 5%, immun disregulation defects in 4%, innate immun system defects in 2%, other defects in 3%. Discussion: Other than the patients living in Erzurum, the patients from the Eastern Anatolia Region are also usually admitting to Erzurum hospitals. Wethink that the PID patients in this region are more than our known patients. So we think that the doctors, who care with pediatric population, should be educated for PID patients. [ABSTRACT FROM AUTHOR]

Allergic bronchopulmonary aspergillosis (ABPA) is a pulmonary disease of asthmatic or cystic fibrosis patients. It is a hypersensitivity reaction to Aspergillus fumigatus. Genetic factors, CD4 + Th2 lymphocyte activation and spesific antibodies production are responsible for the development of the disease. The diagnosis of ABPA is a combination of clinical, biological and radiological criteria. The treatment consists of oral corticosteroids and itraconasole. In this article, we review the diagnosis and treatment of ABPA according to recent investigations. [ABSTRACT FROM AUTHOR]

Objective: Chronic granulomatous disease (CGD) is a genetically heterogeneous primary immunodeficiency that is characterised by bacteria and fungal infections with defective phagocytosis. Interferongamma (INF-γ) has diverse roles in the innate and adaptive responses. Despite several decades of work on INF-γ treatment in CGD, contraversy remains about its use. Materials and Methods: Fifty seven patients with CGD from 14 immunology centers were enrolled to our multi-center study. A questionnaire including patients demographic datas and clinical manifestations such as infectious and granulomatous complications up to enrolment was obtained before and after INF-γ therapy. Results: Fifty seven patients 14 (25%) girls and 34 (75%) boys aged from 2-35 years (mean age: 10.9 ± 7.4 ) were enrolled. The mean age of diagnosis were 4.9 ± 4.8 (0.1-19). 56% of the patient's family had consanguineous marriage and 60% had a primary immunodeficiency (PID) history. Ninety five of the patients were treated with trimethoprim- sulfamethoxazole (TMP-SMX) and 89.5% of them with itraconazol while 60% of them were received INF-γ treatment. The patients receiving INF-γ therapy tend to have lower infectious complications like severe infections, pneumonia, soft tissue infections and lymphadenitis. Aspergillus infection, tissue abcesses and granulomatous complications were also lower in this group. The annual infectious complications according to CGD subtypes, were also lower in gp91phox with receiving INF-γ therapy. Conclusion: The demographic and clinical data of CGD patients in our study indicate that INF-γ prophylaxis treatment decreases the infectious and granulomatous complications in some majority of CGD patients especially in gp91phox. [ABSTRACT FROM AUTHOR]

Objective: Chronic granulomatous disease (CGD) is a genetically heterogeneous primary immunodeficiency that is characterised by bacteria and fungal infections with defective phagocytosis. Interferongamma (INF-γ) has diverse roles in the innate and adaptive responses. Despite several decades of work on INF-γ treatment in CGD, contraversy remains about its use. Materials and Methods: Fifty seven patients with CGD from 14 immunology centers were enrolled to our multi-center study. A questionnaire including patients demographic datas and clinical manifestations such as infectious and granulomatous complications up to enrolment was obtained before and after INF-γ therapy. Results: Fifty seven patients 14 (25%) girls and 34 (75%) boys aged from 2-35 years (mean age: 10.9 ± 7.4 ) were enrolled. The mean age of diagnosis were 4.9 ± 4.8 (0.1-19). 56% of the patient's family had consanguineous marriage and 60% had a primary immunodeficiency (PID) history. Ninety five of the patients were treated with trimethoprim- sulfamethoxazole (TMP-SMX) and 89.5% of them with itraconazol while 60% of them were received INF-γ treatment. The patients receiving INF-γ therapy tend to have lower infectious complications like severe infections, pneumonia, soft tissue infections and lymphadenitis. Aspergillus infection, tissue abcesses and granulomatous complications were also lower in this group. The annual infectious complications according to CGD subtypes, were also lower in gp91phox with receiving INF-γ therapy. Conclusion: The demographic and clinical data of CGD patients in our study indicate that INF-γ prophylaxis treatment decreases the infectious and granulomatous complications in some majority of CGD patients especially in gp91phox. [ABSTRACT FROM AUTHOR]