Immunodeficiency-Associated Childhood Interstitial Lung Diseases: Data from the Türkiye chILD Registry

Handan Kekeç¹, Tuğba Şişmanlar Eyüboğlu¹, Ayşe Tana Aslan¹, Volkan Medeni², Fazılcan Zirek³, Mervenur Tekin³, Figen Gülen⁴, İsmail Güzelkaş⁵, Sanem Eryılmaz Polat⁶, Ayça Kıykım⁷, Sinem Can Oksay⁸, Abdurrahman Erdem Başaran⁹, Ali Ersoy¹⁰, Ela Erdem Eralp¹¹, Gökçen Ünal¹², Beste Özsezen¹³, Gökçen Kartal Öztürk¹⁴, Melih Hangül¹⁵, Mina Hızal¹⁶, Cansu Yılmaz Yeğit¹⁷, Halime Nayır Büyükşahin¹⁸, Füsün Ünal¹⁹, Tuğba Ramaslı Gürsoy²⁰, Ayşe Ayzıt Kılınç Sakallı²¹, Sevgi Pekcan¹², Nazan Çobanoğlu⁴, Güzin Cinel⁶, Yasemin Gökdemir¹¹, Saniye Girit⁸, Ebru Yalçın⁵, Nagehan Emiralioğlu⁵, Ahmet Cevdet Ceylan²², Diclehan Orhan²³, Berna Oğuz²⁴, Nural Kiper⁵

¹Department of Pediatric Pulmonology, Gazi University Faculty of Medicine, Ankara, Türkiye
²Department of Public Health, Gazi University Faculty of Medicine, Ankara, Türkiye
³Department of Pediatric Pulmonology, Ankara University Faculty of Medicine, Ankara, Türkiye
⁴Department of Pediatric Pulmonology, Ege University Faculty of Medicine, İzmir, Türkiye
⁵Department of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Türkiye
⁶Clinic of Pediatric Pulmonology, Ankara Bilkent City Hospital, Ankara, Türkiye
⁷Department of Pediatric Allergy and Immunology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye
⁸Department of Pediatric Pulmonology, Medeniyet University Faculty of Medicine, İstanbul, Türkiye
⁹Department of Pediatric Pulmonology, Akdeniz University Faculty of Medicine, Antalya, Türkiye
¹⁰Department of Pediatric Pulmonology, Erciyes University Faculty of Medicine, Kayseri, Türkiye
¹¹Department of Pediatric Pulmonology, Marmara University Faculty of Medicine, İstanbul, Türkiye
¹²Department of Pediatric Pulmonology, Necmettin Erbakan University Faculty of Medicine, Konya, Türkiye
¹³Department of Pediatric Pulmonology, Dokuz Eylül University Faculty of Medicine, İzmir, Türkiye
¹⁴Clinic of Pediatric Pulmonology, University of Health Sciences Türkiye, Dr. Behçet Uz Pediatric Diseases and Surgery Training and Research Hospital, İzmir, Türkiye
¹⁵Clinic of Pediatric Pulmonology, Cengiz Gökçek Training and Research Hospital, Gaziantep, Türkiye
¹⁶Clinic of Pediatric Pulmonology, University of Health Sciences Türkiye, Ankara Training and Research Hospital, Ankara, Türkiye
¹⁷Clinic of Pediatric Pulmonology, University of Health Sciences Türkiye, Başakşehir Çam and Sakura City Hospital, İstanbul, Türkiye
¹⁸Clinic of Pediatric Pulmonology, Mardin Training and Research Hospital, Mardin, Türkiye
¹⁹Department of Pediatric Pulmonology, Medipol University Faculty of Medicine, İstanbul, Türkiye
²⁰Clinic of Pediatric Pulmonology, University of Health Sciences Türkiye, Van Training and Research Hospital, Van, Türkiye
²¹Department of Pediatric Pulmonology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye
²²Clinic of Genetics, Ankara Bilkent City Hospital, Ankara, Türkiye
²³Department of Pathology, Hacettepe University Faculty of Medicine, Ankara, Türkiye
²⁴Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Türkiye

DOI : 10.4274/balkanmedj.galenos.2025.2025-10-42

Abstract

Background: Childhood interstitial lung diseases (chILD) and immunodeficiencies are rare, heterogeneous, and clinically challenging disorders.

Aims: This study aimed to evaluate the clinical and radiological characteristics of immunodeficiency-related chILD using data from the Türkiye chILD Registry (chILD-TR).
Study Design: We conducted a retrospective cohort study using data collected from the chILD-TR in 2023.

Methods: Patients registered with the B3 code, according to the chILD-European classification, from 18 participating centers were included. Patients were classified into primary immunodeficiency (PID) and secondary immunodeficiency (SID) groups. Demographic, clinical, and radiological variables were compared between the two groups.

Results: Among 667 patients registered in the chILD-TR, 114 (17%) had immunodeficiency-related chILD, including 53 (47%) females. The median current age was 156 months (range: 23–357), the age at symptom onset was 60 months (range: 0–215), and the age at chILD diagnosis was 85 months (range: 2–217). PID was identified in 77 patients (67.6%) and SID in 37 patients (32.4%). The PID group had significantly lower median current age, age at first symptom, and age at chILD diagnosis compared with the SID group (p < 0.05). No significant differences were observed in growth z-scores between the groups (p > 0.05). A history of hematopoietic stem cell transplantation (HSCT) and a diagnosis of bronchiolitis obliterans (BO) were more frequent in the SID group (p < 0.05). The most common computed tomography findings were ground-glass opacities in PID and mosaic perfusion in SID. During follow-up, 14 patients (12.3%) died.

Conclusion: Immunodeficiency-associated chILD encompasses a heterogeneous spectrum of disorders and is associated with increased mortality. Distinct clinical and radiological patterns were observed between PID and SID. These findings underscore the importance of early detection, individualized diagnostic strategies, and ongoing follow-up to improve outcomes in this high-risk population. Recognition of post-infectious BO and following HSCT is critical for timely intervention.