This observational study was designed as a prospective epidemiological screening study. Patients who applied to the centers participating in the study, bronchiectasis was detected on at least one computed tomography of the lungs; Immunoglobulin E height and/or were found to be lymphopenic on at least one examination will be included in the study. Up-to-date data will be collected from patients who have agreed to participate in the study, and a blood sample with DBS will be taken from patients. The blood taken will be subjected to analysis for ADA metabolites. For patients with a high metabolic test, the responsible researcher will advise on clarifying the diagnosis with a genetic test other than the study. In case of formation of new information for each patient, consultation will be provided by the responsible researcher. Thus, the prevalence of ADA enzyme deficiency disease in patients with bronchiectasis, Immunoglobulin E elevation and/or lymphopenia will be evaluated. In addition, with this study, it will be scientifically demonstrated whether lymphopenia and/or Immunoglobulin E height is a parameter that facilitates the early diagnosis of patients with late-onset ADA enzyme deficiency.
Who can participate
Age range18 Years – 40 Years
SexALL
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Inclusion criteria
✓. Lymphopenia: lymphopenia as a result of at least one hemogram of the patient exist,
✓The number of lymphocytes is below 1500/mm3
✓. Immunoglobulin E height: 120 kU/L of immunoglobulin E level having it on
✓. Two or more new ear infections within a year
✓. Two or more new sinus infections within a year when there is no allergy
✕. The patient was diagnosed with ADA enzyme deficiency before being included in the study,
✕. Congenital bronchiectasis before inclusion in the study (cystic fibrosis, primary ciliary dyskinesia,alpha-1 anti trypsin deficiency, etc. diagnosed,
What they're measuring
1
It is the determination of the prevalence of ADA enzyme deficiency
✕. Having used drugs that may cause lymphopenia before being included in the study (chemotherapy, cytotoxic drug use, etc.),
✕. The Ministry of Health COVID-19 diagnosis guide (nazofaringeal, nasal orofaringiyal or SARS-CoV-2 RNA PCR test and/or tomographic) as COVID-19, diagnosed and/or persons who had contact with patients diagnosed in this manner, even karsilasal patient recruitment criteria, these patients will be taken after PCR tests were negative in the study.
✕. Before being included in the study, it should be noted that other diseases that can cause lymphopenia (hematological diseases, oncological diseases, etc.) have been diagnosed with,
✕. The patient has participated in an interventional clinical trial within the last 30 days,
✕. Conclusion-In the opinion of the researcher, the patient will not be able to properly fulfill the study requirements,
✕. Pregnancy-the period of pregnancy and/or lactation,