Search

Background: Pulmonary involvement which can be infectious or noninfectious is one of the most frequent complications in patients with primary immunodeficiency (PID)., Objective: The aim of this study is to assess the pulmonary system of the pediatric patients with PID and report the demographical, clinical, and radiological findings regarding the underlying PID., Methods: The present study included pediatric patients who were receiving immunoglobulin replacement therapy (IGRT) for PID (combined immunodeficiency [CVID] (23), common variable immunodeficiency (15), and agamaglobulinemia [10]) so far or newly diagnosed and started IGRT at Hacettepe University Immunology Department, between January 2015 and January 2018., Results: A total of 48 patients (60.4% male), aged 9.9 (6.1-14) years were included. Time of delay in the diagnosis of immundeficiency was 2.27 (interquartile range: 1.0-6.75) years. CVID patients exhibited higher respiratory system symptoms, as well as a history of recurrent lung infection and hospitalization. Hilar and mediastinal lymphadenopathies, peribronchial thickening, and bronchiectasis were the most common pulmonary complications and more than three lung lobes were affected in 69%. Among the newly diagnosed patients, bronchiectasis was present in 25% and more than three lobes were affected in 62.5%. Although pulmonary nodules and mediastinal lymphadenopathy were frequently computed tomography findings in our patients, only two patients (4.16%) were diagnosed with interstitial lung disease., Conclusion: Although bronchiectasis is predominantly reported as a long-term complication in adult patients with PID, half of our pediatric patient cohort with PID had bronchiectasis, even the newly diagnosed patients. Long-term follow-up is needed to assess the extent to which these pulmonary complications that develop in the natural course of the disease can be prevented by IGRT., (© 2021 Wiley Periodicals LLC.)

Background: Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency. Certain gene loci are pointed out in several studies in CVID patients. Until now, monogenic defects have been identified in only 2-10% of CVID patients; therefore, association of the disease with HLA alleles may be important for elucidating immunological and genetic mechanisms behind CVID. The aim of this study is to investigate the relationship between CVID and HLA alleles., Methods: HLA class I/II alleles were analyzed in 65 patients with CVID and alleles that may be related to disease susceptibility were determined by comparing with 300 healthy controls. We also evaluated HLA allele frequencies in CVID patients with gastrointestial system (GIS) involvement and autoimmune manifestations., Results: When compared with controls, frequencies of B*27, B*35, C*04, and DRB1*04 alleles were significantly different in patients with CVID ( p < .05). Frequencies of C*12, DRB1*13, and DRB1*15 alleles were more frequent in controls, indicating protective alleles ( p < .05). There was a statistically significant difference for DQ2 and DQ8 haplotypes between patients with GIS involvement and controls., Conclusion: In comparison with literature, distinctive HLA alleles found in our study may originate from the diversity in gene pool between the populations. These data may provide clues for disease susceptibility.