Scientific work

Prof. Dr. Safa Barış

395 publications. The source of the information is stated next to each publication.

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  1. Genomic Dissection of Pediatric Protein-Losing Enteropathy and Related Disorders: Clinical, Immunologic, and Therapeutic Insights

    Gastroenterology, 2026

    DOI 10.1053/j.gastro.2025.10.022 PMID 41686101 Source: OpenAlex

  2. Disseminated Tuberculosis and Early-Onset SLE in a Child with a Novel STAT1 Gain-of-Function Mutation: a Case Report

    Journal of Clinical Immunology, 2026

    DOI 10.1007/s10875-026-02040-y PMID 42319627 Open-access full textSource: ORCID

  3. When cure is not enough: Parental anxiety, depression, and caregiver burden after HSCT for inborn errors of immunity

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, 2026

    DOI 10.1111/pai.70543 PMID 42969273 Source: Europe PMC

  4. Beyond immune recovery: Quality of life and psychosocial challenges in children with inborn errors of immunity after transplantation

    Irish journal of medical science, 2026

    DOI 10.1007/s11845-026-04480-2 PMID 42287508 Open-access full textSource: Europe PMC

  5. Immune Checkpoint Dysfunction Remodels Adaptive Immune Receptor Repertoires in CTLA-4 Insufficiency and LRBA Deficiency

    Clinical reviews in allergy & immunology, 2026

    DOI 10.1007/s12016-026-09209-8 PMID 42895678 Source: Europe PMC

  6. Genomic diagnosis and multisystem phenotyping in pediatric congenital analbuminemia: clinical, coagulation, and immune signatures

    Frontiers in Pediatrics, 2026

    DOI 10.3389/fped.2026.1810945 PMID 42311911 Open-access full textSource: OpenAlex

  7. Allergic diseases and early childhood insomnia: A cross-sectional study

    Sleep Medicine, 2026

    DOI 10.1016/j.sleep.2026.109175 PMID 42531837 Source: ORCID

  8. A homozygous CTLA-4 variant causes CTLA-4 deficiency with severe immune dysregulation

    Journal of human immunity, 2026

    DOI 10.70962/jhi.20250227 PMID 42273361 2 citations (Europe PMC) Open-access full textSource: Europe PMC

  9. GPR15-guided CD8<sup>+</sup> T regulatory cells control intestinal inflammation

    Nature, 2026

    DOI 10.1038/s41586-026-10749-4 PMID 42259915 4 citations (Europe PMC) Open-access full textSource: Europe PMC

  10. SPINK5 Variants Drive Clinical Variability in Netherton Syndrome Through Th2/Th17 Skewing and Influence Therapeutic Outcomes

    The Journal of Allergy and Clinical Immunology In Practice, 2026

    DOI 10.1016/j.jaip.2026.01.009 PMID 41611084 Source: OpenAlex

  11. From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease

    Molecular Genetics and Metabolism, 2026

    DOI 10.1016/j.ymgme.2026.109752 PMID 41719910 Open-access full textSource: OpenAlex

  12. CTLA-4 Variant Interpretation and Clinical Impact

    Journal of Human Immunity, 2026

    DOI 10.70962/cis2026abstract.135 Open-access full textSource: OpenAlex

  13. Dominant-Negative FOXN1 Mutations: Clinical Variability and Omenn Syndrome Management in an International Cohort of 7 Families

    Journal of Human Immunity, 2026

    DOI 10.70962/cis2026abstract.53 Open-access full textSource: OpenAlex

  14. Editorial Expression of Concern: DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

    Nature Immunology, 2026

    DOI 10.1038/s41590-026-02572-w PMID 42225954 Open-access full textSource: OpenAlex

  15. Triggers, clinical spectra and outcomes of pediatric anaphylaxis in a tertiary center: impact of comorbidities and cofactors on severity

    Allergy Asthma and Clinical Immunology, 2026

    DOI 10.1186/s13223-026-01033-1 PMID 42321881 Open-access full textSource: OpenAlex

  16. Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients

    Journal of Human Immunity, 2026

    DOI 10.70962/jhi.20260091 PMID 42495711 Open-access full textSource: OpenAlex

  17. Lymphoproliferative Presentation of DIAL Syndrome Due to a Recurrent DIAPH1 p.Arg351* Variant: A Case Report

    Molecular Syndromology, 2026

    DOI 10.1159/msy/adrag001 Source: OpenAlex

  18. Enhancing Primary Immunodeficiency Diagnosis: Findings From Targeted Genetic Testing in a Turkish Cohort

    Scandinavian Journal of Immunology, 2025

    DOI 10.1111/sji.70031 PMID 40518733 Open-access full textSource: OpenAlex

  19. Abatacept restores dysregulated transcriptomic and proteomic profile in disorders of CTLA-4 insufficiency

    Journal of Allergy and Clinical Immunology, 2025

    DOI 10.1016/j.jaci.2025.08.027 PMID 40967277 9 citations (OpenAlex) Open-access full textSource: OpenAlex

  20. Comprehensive αβ T‐Cell Receptor Repertoire Analysis Reveals a Unique CD8+ TCR Landscape in DOCK8‐Deficient Patients

    Allergy, 2025

    DOI 10.1111/all.16580 PMID 40346988 3 citations (OpenAlex) Open-access full textSource: OpenAlex

  21. Clinical and Genetic Characteristics of Global Cohort of 132 Individuals with Janus Kinase-3 Deficiency

    Journal of Human Immunity, 2025

    DOI 10.70962/cis2025abstract.169 Open-access full textSource: OpenAlex

  22. A plain language summary of a study looking at the effects of pozelimab in children with CHAPLE disease

    Future Rare Diseases, 2025

    DOI 10.1080/23995270.2025.2498826 Open-access full textSource: OpenAlex

  23. Inborn Errors of Immunity in Pediatric Intensive Care: Prevalence, Characteristics, and Prognosis

    Journal of Clinical Immunology, 2025

    DOI 10.1007/s10875-024-01823-5 PMID 39404985 3 citations (Europe PMC) Open-access full textSource: ORCID

  24. IgG4‐Related Disease: Emerging Roles of Novel Genetic Variants, Immune Cell Subsets and Therapeutic Targets

    Allergy, 2025

    DOI 10.1111/all.16686 PMID 40785550 4 citations (Europe PMC) Open-access full textSource: ORCID

  25. Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging

    Journal of Human Immunity, 2025

    DOI 10.70962/jhi.20250027 PMID 41142635 14 citations (Europe PMC) Open-access full textSource: ORCID

  26. Mast Cells Are Intrinsically Primed for Degranulation in DOCK8 Deficiency

    Allergy, 2025

    DOI 10.1111/all.16651 PMID 40654159 Source: ORCID

  27. The JAK/STAT conundrum with mutational heterogeneity, immune defects, and the emergence of targeted therapies

    Expert Review of Clinical Immunology, 2025

    DOI 10.1080/1744666x.2025.2543475 PMID 40844826 1 citation (Europe PMC) Source: ORCID

  28. Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP

    Blood Advances, 2025

    DOI 10.1182/bloodadvances.2024014344 PMID 39775668 3 citations (Europe PMC) Open-access full textSource: ORCID

  29. Cross-sectional Analysis of Health Quality, Treatment Satisfaction and Adherence in Children with Food Allergy

    Clinical and Experimental Health Sciences, 2025

    DOI 10.33808/clinexphealthsci.1589757 1 citation (OpenAlex) Open-access full textSource: ORCID

  30. The Discrepancy Between Perceived and Proven Drug Hypersensitivity in a Well-Defined Cohort of Patients With Inborn Errors of Immunity

    Allergy, 2025

    DOI 10.1111/all.16570 PMID 40298338 2 citations (Europe PMC) Open-access full textSource: Europe PMC

  31. Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature

    Science immunology, 2025

    DOI 10.1126/sciimmunol.adq1697 PMID 39792639 19 citations (Europe PMC) Open-access full textSource: Europe PMC

  32. Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients

    Journal of Human Immunity, 2025

    DOI 10.70962/jhi.20250007 PMID 40568655 50 citations (OpenAlex) Open-access full textSource: OpenAlex

  33. CTLA4-related primary immune dysregulatory disorders

    Current Opinion in Allergy and Clinical Immunology, 2025

    DOI 10.1097/aci.0000000000001117 PMID 41158012 4 citations (OpenAlex) Source: OpenAlex

  34. Subjective assessment of sleep quality in adult patients with hereditary angioedema

    Frontiers in Neurology, 2025

    DOI 10.3389/fneur.2025.1555562 PMID 40308220 3 citations (OpenAlex) Open-access full textSource: OpenAlex

  35. Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency

    Turkish Archives of Pediatrics, 2025

    DOI 10.5152/turkarchpediatr.2025.24172 PMID 39804022 3 citations (OpenAlex) Open-access full textSource: OpenAlex

  36. Invasive Mould Infections in Chronic Granulomatous Disease: A Multicenter Study From Türkiye

    Mycoses, 2025

    DOI 10.1111/myc.70086 PMID 40607896 3 citations (OpenAlex) Open-access full textSource: OpenAlex

  37. Clinical and Immunological Prognostic Factors With Novel Variants in a Large Cohort of Diacylglycerol Acyltransferase 1 Deficiency

    The Journal of Allergy and Clinical Immunology In Practice, 2025

    DOI 10.1016/j.jaip.2025.03.026 PMID 40154740 1 citation (OpenAlex) Source: OpenAlex

  38. Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry

    Frontiers in Genetics, 2025

    DOI 10.3389/fgene.2025.1584681 PMID 40860338 1 citation (OpenAlex) Open-access full textSource: OpenAlex

  39. Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis

    Frontiers in Immunology, 2025

    DOI 10.3389/fimmu.2025.1662858 PMID 41346588 Open-access full textSource: OpenAlex

  40. Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study

    The Lancet, 2024

    DOI 10.1016/s0140-6736(23)02358-9 PMID 38278170 26 citations (Europe PMC) Open-access full textSource: ORCID

  41. Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome

    Journal of Clinical Immunology, 2024

    DOI 10.1007/s10875-023-01620-6 PMID 38129713 10 citations (Europe PMC) Source: ORCID

  42. LTβR deficiency causes lymph node aplasia and impaired B cell differentiation

    Science Immunology, 2024

    DOI 10.1126/sciimmunol.adq8796 PMID 39576873 13 citations (OpenAlex) Open-access full textSource: OpenAlex

  43. Neurocognitive Impairment in Patients With Ataxia Telangiectasia and Their Unaffected Parents: Is It Similar?

    Pediatric Neurology, 2024

    DOI 10.1016/j.pediatrneurol.2024.04.010 PMID 38733859 Source: OpenAlex

  44. Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion

    Journal of clinical immunology, 2024

    DOI 10.1007/s10875-024-01682-0 PMID 38578569 5 citations (Europe PMC) Open-access full textSource: Europe PMC

  45. Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, 2024

    DOI 10.1111/pai.14171 PMID 38860449 6 citations (Europe PMC) Open-access full textSource: Europe PMC

  46. Long-term immunological changes after corrective cardiac surgery

    Scandinavian journal of immunology, 2024

    DOI 10.1111/sji.13418 PMID 39474990 4 citations (Europe PMC) Open-access full textSource: Europe PMC

  47. DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans

    Journal of clinical immunology, 2024

    DOI 10.1007/s10875-024-01777-8 PMID 39120629 6 citations (Europe PMC) Open-access full textSource: Europe PMC

  48. GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

    Nature immunology, 2024

    DOI 10.1038/s41590-023-01691-y PMID 38172257 16 citations (Europe PMC) Open-access full textSource: Europe PMC

  49. Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond

    Trends in Immunology, 2024

    DOI 10.1016/j.it.2023.12.003 PMID 38238227 46 citations (OpenAlex) Open-access full textSource: OpenAlex

  50. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study

    The Lancet Haematology, 2024

    DOI 10.1016/s2352-3026(23)00362-9 PMID 38302222 23 citations (OpenAlex) Open-access full textSource: OpenAlex