Multidimensional Assessment of Patient-Reported-Outcomes in a Multicenter Cohort of Inborn Errors of Immunity

Patient-reported outcomes are critical to multidisciplinary, patient-centred approaches in diseases requiring lifelong management. Among inborn errors of immunity (IEIs), reports on this subject are typically limited to specific diagnostic subgroups or focus narrowly on the route of immunoglobulin replacement therapy (IgRT), offering a restricted perspective. We aimed to evaluate the health-related quality of life (HRQoL) and IgRT-related treatment satisfaction (TS) of a heterogeneous cohort of IEI patients and identify factors influencing these outcomes to guide improving the health and well-being of IEI patients. We conducted a cross-sectional survey targeting IEI patients on IgRT, assessing TS (TSQM-9) and HRQoL (KINDL/SF-36). Patient/caregiver-reported data were integrated with clinical data to identify outcomes and influencing factors. The survey included 500 IEI patients (356 children, 144 adults) diagnosed 54% Primary Antibody Deficiency (PAD), 36% combined immunodeficiency, 7% immune-dysregulation, and 3% other IEIs. Non-PAD diagnoses, comorbidities, absence of school/work attendance, and IgRT-related systemic adverse reactions negatively impacted HRQoL. Severe infections and related hospitalizations adversely influenced both HRQoL and TS. The subcutaneous route of IgRT, particularly at home, was associated with higher TS due to its convenience and reduced school/work absenteeism. However, the IgRT route did not influence adult HRQoL. Patient-reported well-being and satisfaction in IEIs are multifactorial and cannot be solely attributed to the route of IgRT. Minimizing negative experiences related to the disease or its treatment and, where possible, encouraging patients to maintain school/work attendance or engage in activities that promote societal participation can enhance self-esteem, coping abilities, and overall well-being.

Authors

Institutions

Publication Details

Journal
Journal of Clinical Immunology
Published
2026-01-06
DOI
https://doi.org/10.1007/s10875-025-01972-1
Primary Topic
Immunodeficiency and Autoimmune Disorders
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Multidimensional Assessment of Patient-Reported-Outcomes in a Multicenter Cohort of Inborn Errors of Immunity

Dilara Kocacik Uygun, Burcu Kolukısa, Işıl Eser Şimşek, Fatma Merve Tepetam et al.
Journal of Clinical Immunology
Immunodeficiency and Autoimmune Disorders
article

Multidimensional Assessment of Patient-Reported-Outcomes in a Multicenter Cohort of Inborn Errors of Immunity

Dilara Kocacik Uygun, Burcu Kolukısa, Işıl Eser Şimşek, Fatma Merve Tepetam, Özge Atik, Esra KARABİBER, Ömür Ardeniz, Safa Baris, Hasibe Artaç, Selcen Bozkurt, Uzm.dr. Deniz Özçeker, Salim Can, Ümmügülsüm Dikici, T. Yolcu, Alev Bingöl, Cebbar Yildirimcakar, Aysu İLHAN YALAKİ, Reyhan Gümüşburun, Melek Yorgun Altunbaş, Ramin Mahmudov, Arda Özen, Muhlis Cem Ar, Sevgi Bilgic-Eltan, Hatice Eke-Gungor, Ece Tüsüz Önata, Gaye Kocatepe, Ebru Yılmaz, Necmiye Öztürk, Nagihan Iskender, Fatih Celmeli, Razin Amirov, Demet Tekcan, Burkay Cagan Colak, Dilan Sirin, Ezgi Yalçın Güngören, Hayrunnisa Bekis Bozkurt, Asena Pinar Sefer, Elif Karakoc-Aydiner, Iknur Kulhas Celik, Öner Özdemir, Tuğba Arikoglu, Zeycan Canitez Oral, Pelin Ozturk
article en

Abstract

Patient-reported outcomes are critical to multidisciplinary, patient-centred approaches in diseases requiring lifelong management. Among inborn errors of immunity (IEIs), reports on this subject are typically limited to specific diagnostic subgroups or focus narrowly on the route of immunoglobulin replacement therapy (IgRT), offering a restricted perspective. We aimed to evaluate the health-related quality of life (HRQoL) and IgRT-related treatment satisfaction (TS) of a heterogeneous cohort of IEI patients and identify factors influencing these outcomes to guide improving the health and well-being of IEI patients. We conducted a cross-sectional survey targeting IEI patients on IgRT, assessing TS (TSQM-9) and HRQoL (KINDL/SF-36). Patient/caregiver-reported data were integrated with clinical data to identify outcomes and influencing factors. The survey included 500 IEI patients (356 children, 144 adults) diagnosed 54% Primary Antibody Deficiency (PAD), 36% combined immunodeficiency, 7% immune-dysregulation, and 3% other IEIs. Non-PAD diagnoses, comorbidities, absence of school/work attendance, and IgRT-related systemic adverse reactions negatively impacted HRQoL. Severe infections and related hospitalizations adversely influenced both HRQoL and TS. The subcutaneous route of IgRT, particularly at home, was associated with higher TS due to its convenience and reduced school/work absenteeism. However, the IgRT route did not influence adult HRQoL. Patient-reported well-being and satisfaction in IEIs are multifactorial and cannot be solely attributed to the route of IgRT. Minimizing negative experiences related to the disease or its treatment and, where possible, encouraging patients to maintain school/work attendance or engage in activities that promote societal participation can enhance self-esteem, coping abilities, and overall well-being.

Journal of Clinical ImmunologyVol. 46(1)
Sakarya University (TR), Selçuk University (TR), Recep Tayyip Erdoğan University (TR), Manisa Celal Bayar University (TR), Akdeniz University (TR), Ege University (TR), Ümraniye Eğitim ve Araştırma Hastanesi (TR), Istanbul University-Cerrahpaşa (TR), Sakarya Eğitim ve Araştırma Hastanesi (TR), Ankara Spine Center (TR), Education Training And Research (US), Kayseri Eğitim ve Araştırma Hastanesi (TR), Sağlık Bilimleri Üniversitesi (TR), Istanbul Eye Hospital (TR), Jeffrey Modell Foundation (AU), Pamukkale University (TR), Mersin Üniversitesi (TR), Kocaeli Üniversitesi (TR), Marmara University (TR), University of Health Sciences Antigua (AG)
Openalex Percentile: Top 96%
Immunodeficiency and Autoimmune Disorders
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.