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Primary Immunodeficiency Disorders in children with Non-Cystic Fibrosis Bronchiectasis
D Çağdaş1, M Pehlivantürk Kizılkan2, A Tagiyev2
1Department of Pediatrics, Division of Pediatric Immunology, Hacettepe University Medical School, Ankara, Turkey.
Insights
Primary immunodeficiency diseases (PID) are common in non-cystic fibrosis bronchiectasis (NCFB), affecting nearly 40% of patients. Early diagnosis and immunology clinic follow-up are crucial for better clinical outcomes in these individuals.
Area of Science:
- Immunology
- Pulmonology
- Genetics
Background:
- Primary immunodeficiency diseases (PID) are frequently observed in patients with non-cystic fibrosis bronchiectasis (NCFB).
- Understanding the prevalence and types of PID in NCFB is essential for timely diagnosis and management.
Purpose of the Study:
- To determine the ratio and types of primary immunodeficiency diseases (PID) in patients diagnosed with non-cystic fibrosis bronchiectasis (NCFB).
Main Methods:
- A cohort of seventy NCFB patients was followed over two years.
- Data collected included patient demographics, age of first pulmonary infection, age of bronchiectasis diagnosis, and presence of co-morbidities.
- Genetic testing and immunological assessments were performed for a subset of patients.
Main Results:
- Approximately 40% of NCFB patients (29 out of 70) were diagnosed with a PID, predominantly primary antibody deficiencies.
- Patients with PID and non-PID NCFB showed no significant differences in demographic factors or common co-morbidities.
- Patients with PID experienced a significant delay (approximately 3 years) in admission to an immunology clinic compared to non-PID patients.
Conclusions:
- Primary immunodeficiency diseases constitute a significant proportion, around 40%, of NCFB cases.
- Early detection and appropriate treatment, including specialized follow-up in immunology clinics, are vital for improving the clinical trajectory of PID patients.
- Routine screening for PID is recommended for infants experiencing their first pneumonia within the first year of life and for all NCFB patients.
Summary:
Introduction. Primary immunodeficiency diseases (PID) are common in patients with non-cystic fibrosis bronchiectasis (NCFB). Our objective was to determine ratio/types of PID in NCFB. Methods. Seventy NCFB patients followed up in a two-year period were enrolled. Results. Median age was 14 years (min-max: 6-30). Male/female ratio was 39/31; parental consanguinity, 38.6%. Most patients with NCFB (84.28%) had their first pulmonary infection within the first year of their lives. Patients had their first pulmonary infection at a median age of 6 months (min-max: 0.5-84), were diagnosed with bronchiectasis at about 9 years (114 months, min-max: 2-276). PID, primary ciliary dyskinesia (PCD), bronchiolitis obliterans, rheumatic/autoimmune diseases, severe congenital heart disease and tuberculosis were evaluated as the most common causes of NCFB. About 40% of patients (n=16) had bronchial hyperreactivity (BH) and asthma. Twenty-nine patients (41.4%) had a PID, and nearly all (n=28) had primary antibody deficiency, including patients with combined T and B cell deficiency. PID and non-PID groups did not differ according to gender, parental consanguinity, age at first pneumonia, age of onset of chronic pulmonary symptoms, bronchiectasis, presence of gastroesophageal reflux disease (GERD), BH and asthma (p greater-than 0.05). Admission to immunology clinic was about 3 years later in PID compared with non-PID group (p less-than 0.001). Five patients got molecular diagnosis, X-linked agammaglobulinemia (n=2), LRBA deficiency (n=1), RASGRP1 deficiency (n=1), MHC Class II deficiency (n=1). They were given monthly IVIG and HSCT was performed for three patients. Conclusions. PID accounted for about 40% of NCFB. Early diagnosis/appropriate treatment have impact on clinical course of a PID patient. Thus, follow-up in also immunology clinics should be a routine for patients who experience pneumonia in the first year of their lives and those with NCFB.
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