Multidimensional Assessment of Patient-Reported-Outcomes in a Multicenter Cohort of Inborn Errors of Immunity Melek Yorgun Altunbas, Asena Pinar Sefer, Sevgi Bilgic-Eltan, Cebbar Yildirimcakar, Pelin Ozturk, Ümmügülsüm Dikici, Ece Tüsüz Önata, Özge Atik, Hatice Eke-Gungor, Burcu Kolukisa, Hayrunnisa Bekis Bozkurt, Gaye Kocatepe, Şefika İlknur Kökcü Karadağ, Aysu İlhan Yalaki, Zeycan Canitez Oral, Nagihan Iskender, Tuğba Kıratlı Kıratlı Yolcu, Dilan Şirin, Reyhan Gumusburun, Demet Tekcan, Iknur Kulhas Celik, Salim Can, Razin Amirov, Necmiye Ozturk, Selcen Bozkurt, Burkay Cagan Colak, Ramin Mahmudov, Ezgi Yalcın Gungoren, Esra Karabiber, Hasibe Artac, Omur Ardeniz, Isıl Eser Simsek, Fatih Çelmeli, Tuğba Arikoglu, Deniz Özçeker, Dilara Kocacik Uygun, Aysen Bingol, Fatma Merve Tepetam, Öner Özdemir, Muhlis Cem Ar, Ebru Arik Yilmaz, Ahmet Ozen, Safa Baris, Elif Karakoc-Aydiner Journal of Clinical Immunology, 2026 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.
SPINK5 Variants Drive Clinical Variability in Netherton Syndrome Through Th2/Th17 Skewing and Influence Therapeutic Outcomes Melek Yorgun Altunbas, Erhan Topal, Feyza Bayram-Catak, Mehmet Cihangir Catak, Razin Amirov, Burkay Cagan Colak, Asena Pınar Sefer, Salim Can, Necmiye Keser-Ozturk, Selcen Bozkurt, Ramin Mahmudov, Alper Bulut, Durmus Burak Demirkaya, Bernice Lo, Sevgi Bilgic-Eltan, Elif Karakoc-Aydiner, Ahmet Ozen, Ayşe Deniz Yücelten, Safa Baris Journal of Allergy and Clinical Immunology in Practice, 2026
Early markers of baked milk and egg tolerance in young children with IgE-mediated immediate reactions M.Y Altunbas, E.Y. Gungoren, S. Can, R. Amirov, N. Ozturk, S. Bozkurt, S. Bilgic Eltan, S. Baris, A. Ozen, E. Karakoc-Aydiner European Annals of Allergy and Clinical Immunology, 2026 Background.Children with milk and egg allergies have outcomes in which, three-quarters are tolerant to baked forms of the allergenic food.Identifying predictors of tolerance to baked foods for IgE-mediated immediate-type reactions may guide the early introduction of baked allergens to diet and tolerance development.This study explores factors associated with early tolerance to baked foods.Methods.We retrospectively analysed patients with IgE-mediated immediatetype food allergy in infancy who either became tolerant to the baked form before two years or remained reactive after two years.Results.We examined 143 patients solely with IgE-mediated immediate-type egg and/or milk allergies excluding the ones having atopic dermatitis, 76 (42 egg-allergics; 34 milk-allergics) achieved tolerance, and 67 (38 egg-allergics; 29 milk-allergics) were reactive beyond the age of two.Independent markers favoring tolerance to baked forms at two years included the absence of anaphylaxis during the first reaction, applicable to milk and egg allergens.The absence of familial atopy and concomitant egg allergy were also independent predictors for milk-allergic subjects.Receiver operating characteristic analysis M a n u s c r i p t a c c e p t e d f o r p u b l i c a t i o n determined cut-off values for specific-Immunoglobulin E (sIgE) levels (kU/L) predicting mild phenotype at first admission: egg white-sIgE 7. 39, with AUC values of 0.703, 0.716, and 0.749, respectively.Conclusions.This study identifies key prognostic for tolerance of baked allergen for IgE-mediated immediate-type reactions, providing valuable insights to determine the patients who need more intensive care versus the ones who don't need baked allergen avoidance early in their life from their initial admission at infancy.
Activated PI3Kδ syndrome in inborn errors of immunity: diagnostic strategies and clinical challenges Selcen Bozkurt, Necmiye Ozturk, Melek Yorgun Altunbas, Salim Can, Razin Amirov, Ramin Mahmudov, Burkay Cagan Colak, Esra Karabiber, Manuela Baronio, Vassilios Lougaris, Giulio Tessarin, Sevgi Bilgic-Eltan, Ahmet Ozen, Safa Baris, Elif Karakoc-Aydiner Frontiers in Immunology, 2026 Introduction This study aims to present in a large real-world cohort a diagnostic algorithm developed to facilitate the early recognition of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS), a rare disease with targeted treatment options, and to provide clinicians with a practical roadmap for navigating diagnostic challenges. Methods The study was conducted as a retroactive cross-sectional observational study. We reviewed the medical records of 6,458 pediatric and adult patients who were referred to our clinic between 2018 and 2025. A medical algorithm was generated based on major clinical and laboratory features of APDS. Next-generation sequencing analyses were performed on patients who were appropriate for further evaluation. Variant analysis using in silico predictors and S6 phosphorylation analysis in patients carrying previously undescribed variants were conducted accordingly. Results In this cohort of 6,458 patients, the diagnostic algorithm identified 1,138 who met at least one major clinical or laboratory criterion. After excluding 7 with a prior APDS diagnosis and 573 with other inborn errors of immunity, genetic analysis was performed in 20 consenting patients under clinical follow-up (11 [55%] female, 9 [45%] male; median age 15 years; IQR 7.5–24). APDS type 2 was confirmed in 1 patient; five others harbored novel variants of uncertain significance. Conclusion Delayed diagnosis and treatment of APDS may result in life-threatening complications and irreversible end-organ damage. Given its heterogeneous, overlapping phenotype, timely referral for genetic testing is essential.
A Comprehensive Assessment of Health-Related Quality of Life in Hereditary Angioedema as a Patient-Centered Approach Ezgi Yalcin Gungoren, Esra Karabiber, Melek Yorgun Altunbas, Salim Can, Ece Tusuz Onata, Ozge Atik, Ummugulsum Dikici, Zeynep Meric, Ismail Ozanli, Razin Amirov, Necmiye Ozturk, Selcen Bozkurt, Isil Eser Simsek, Ayca Kiykim, Esra Ozek Yucel, Gulhan Bogatekin, Metin Aydogan, Fatma Merve Tepetam, Oner Ozdemir, Ebru Arik Yilmaz, Emine Nihal Mete Gokmen, Sevgi Bilgic-Eltan, Safa Baris, Ahmet Ozen, Elif Karakoc-Aydiner International Archives of Allergy and Immunology, 2026 Introduction: Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1INH) has a substantial impact on patients’ health-related quality of life (HRQoL). While generic instruments are frequently used for assessment, they may not fully capture the disease-specific burden. This study aimed to evaluate HRQoL in patients with HAE-C1INH types I and II using validated, angioedema-specific tools. The aims of the study were to assess HRQoL and disease control in patients with HAE-C1INH using validated angioedema-specific tools and secondarily to explore the association between attack localization and domain-specific quality-of-life impairments. Methods: In this multicenter cross-sectional study, 82 patients with HAE-C1INH from six referral centers completed the Angioedema Control Test (AECT), Angioedema Activity Score (AAS)-28, and Angioedema Quality of Life questionnaire (AE-QoL). Family screening was conducted among those who consented. Results: Patients experiencing attacks in the extremities (p < 0.001) and laryngeal/pharyngeal regions (p = 0.028) had significantly lower AECT scores, indicating poorer disease control. Higher AAS-28 scores were associated with attacks in the extremities (p = 0.008), abdomen (p = 0.018), face/neck (p = 0.004), larynx/pharynx (p < 0.001), and tongue/uvula/palate (p < 0.001). AE-QoL scores revealed impaired quality of life across all attack locations. Subdomain analysis showed that abdominal attacks significantly impacted the functioning (p = 0.005) and food (p = 0.037) domains. Attacks involving the face/neck and larynx/pharynx were associated with substantial impairment in fatigue/mood (p = 0.002, p = 0.003), functioning (p = 0.044, p = 0.002), and fears/shame (p = 0.039, p = 0.005) subdomains. Conclusion: While attack frequency and disease control remain the primary determinants of HRQoL in HAE-C1INH, our findings indicate that attack localization is associated with distinct domain-specific quality-of-life impairments. Beyond assessing attack frequency, the use of disease-specific QoL tools allows for the identification of domain-specific impairments. Personalized treatment strategies targeting both symptom control and quality-of-life domains are essential for alleviating the long-term burden on patients and their families.
Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey Hayrunnisa Bekis Bozkurt, Feyza Bayram Catak, Ali Sahin, Ezgi Yalcin Gungoren, Betul Gemici Karaarslan, Nalan Yakici, Melek Yorgun Altunbas, Mehmet Cihangir Catak, Salim Can, Razin Amirov, Selcen Bozkurt, Necmiye Ozturk, Sevgi Bilgic Eltan, Nurhan Kasap, Fatma Bal Cetinkaya, Fazil Orhan, Mustafa Arga, Ozlem Cavkaytar, Ayca Kiykim, Elif Karakoc-Aydiner, Ahmet Ozen, Safa Baris Journal of Clinical Immunology, 2025
Correction to: DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans (Journal of Clinical Immunology, (2024), 44, 8, (175), 10.1007/s10875-024-01777-8) Zehra Busra Azizoglu, Royala Babayeva, Zehra Sule Haskologlu, Mustafa Burak Acar, Serife Ayaz-Guner, Fatma Zehra Okus, Mohammad Bilal Alsavaf, Salim Can, Kemal Erdem Basaran, Mehmed Fatih Canatan, Alper Ozcan, Hasret Erkmen, Can Berk Leblebici, Ebru Yilmaz, Musa Karakukcu, Mehmet Kose, Ozlem Canoz, Ahmet Özen, Elif Karakoc-Aydiner, Serdar Ceylaner, Gülsüm Gümüş, Huseyin Per, Hakan Gumus, Halit Canatan, Servet Ozcan, Figen Dogu, Aydan Ikinciogullari, Ekrem Unal, Safa Baris, Ahmet Eken Journal of Clinical Immunology, 2025 CANATAN, Mehmed Fatih/0000-0002-2844-061X; AYAZ GUNER, SERIFE/0000-0002-1052-0961; Can, Salim/0000-0003-3797-3001; BASARAN, KEMAL ERDEM/0000-0001-6035-9398; Acar, Mustafa Burak/0000-0002-9109-6575
Clinical and Immunological Prognostic Factors With Novel Variants in a Large Cohort of Diacylglycerol Acyltransferase 1 Deficiency Melek Yorgun Altunbas, Hubert Kogler, Hassan Abolhassani, Erkan Akkus, Ahmet Basturk, Emre Akkelle, Ersin Sayar, Esra Polat, Altan Kara, Salim Can, Alexandra Frohne, Anna Segarra-Roca, Raul Jimenez-Heredia, Royala Babayeva, Asena Pınar Sefer, Ayca Kiykim, Sevgi Bilgic Eltan, Elif Karakoc-Aydiner, Ahmet Ozen, Omer Faruk Beser, Kaan Boztug, Nima Rezaei, Safa Baris Journal of Allergy and Clinical Immunology in Practice, 2025
Complement dysregulation at lymphatics Ahmet Ozen, Salim Can, Asena Pinar Sefer, Necmiye Keser Ozturk, Burkay Cagan Colak Journal of Allergy and Clinical Immunology, 2025
Ruxolitinib treatment ameliorates clinical, immunologic, and transcriptomic aberrations in patients with STAT3 gain-of-function disease Feyza Bayram Catak, Mehmet Cihangir Catak, Royala Babayeva, John Toubia, Nicholas I. Warnock, Fatih Celmeli, Demet Hafizoglu, Nalan Yakici, Basak Kayaoglu, Naz Surucu, Ezgi Yalcin Gungoren, Salim Can, Melek Yorgun Altunbas, Ibrahim Serhat Karakus, Ayca Kiykim, Fazil Orhan, Sevgi Bilgic Eltan, Elif Karakoc-Aydiner, Ahmet Ozen, Baran Erman, Mayda Gursel, Chung Hoow Kok, Gökhan Cildir, Safa Baris Journal of Allergy and Clinical Immunology, 2025
Long-term immunological changes after corrective cardiac surgery Sevgi Bilgic‐Eltan, Razin Amirov, Royale Babayeva, Melek Yorgun Altunbas, Tuba Karakurt, Salim Can, Ezgi Yalcin Gungoren, Selcen Bozkurt, Necmiye Ozturk, Mehmet Cihangir Catak, Alper Bulutoglu, Gizem Onder, Yuk Yin Ng, Ozden Hatırnaz Ng, Elif Karakoc‐Aydiner, Ahmet Oguzhan Ozen, Safa Baris Scandinavian Journal of Immunology, 2024
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans Zehra Busra Azizoglu, Royala Babayeva, Zehra Sule Haskologlu, Mustafa Burak Acar, Serife Ayaz-Guner, Fatma Zehra Okus, Mohammad Bilal Alsavaf, Salim Can, Kemal Erdem Basaran, Mehmed Fatih Canatan, Alper Ozcan, Hasret Erkmen, Can Berk Leblebici, Ebru Yilmaz, Musa Karakukcu, Mehmet Kose, Ozlem Canoz, Ahmet Özen, Elif Karakoc-Aydiner, Serdar Ceylaner, Gülsüm Gümüş, Huseyin Per, Hakan Gumus, Halit Canatan, Servet Ozcan, Figen Dogu, Aydan Ikinciogullari, Ekrem Unal, Safa Baris, Ahmet Eken Journal of Clinical Immunology, 2024
