ArticleClinical immunology (Orlando, Fla.)2023
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Erratum issuedOpen access · hybridAbstract read
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Article in Clinical immunology (Orlando, Fla.), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 6 papers.
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6citing papers in PubMed
1.8field-weighted citation impact, top 14% of its field
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- External Validation and Feedback-Driven Improvement of the Diagnostic Model for Pediatric Cervical Lymphadenopathy.Cancers · 2026Article
- Comprehensive αβ T-Cell Receptor Repertoire Analysis Reveals a Unique CD8+ TCR Landscape in DOCK8-Deficient Patients.Allergy · 2025Article
- Thymic inborn errors of immunity.The Journal of allergy and clinical immunology · 2025Review
- Rediscovering the human thymus through cutting-edge technologies.The Journal of experimental medicine · 2024Review
- Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia.Journal of clinical immunology · 2024Article
- Primary and secondary defects of the thymus.Immunological reviews · 2024Review
Corrections and comments
- Erratum issued
Authors and funding
39 authors at 12 institutions in 5 countries.
Nalan YakiciDepartment of Pediatrics, Division of Pediatric Allergy and Immunology, Faculty of Medicine, Karadeniz Technical University Trabzon, Turkey.
Alexandra Y KreinsGreat Ormond Street Institute of Child Health, Infection, Immunity and Inflammation Research & Teaching Department, University College London, London, United Kingdom; Department of Immunology and Gene therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom. Electronic address: a.kreins@ucl.ac.uk.
Mehmet Cihangir CatakDivision of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.
Royala BabayevaDivision of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.
Baran ErmanInstitute of Child Health, Hacettepe University, Ankara, Turkey; Can Sucak, Research Laboratory for Translational Immunology, Center for Genomics and Rare Diseases, Hacettepe University, Ankara, Turkey.
Heather KenneyImmune Deficiency Genetics Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, USA.
Hatice Eke GungorDivision of Pediatric Allergy and Immunology, Erciyes City Hospital, Turkey.
Pablo A CeaInstitute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University, Düsseldorf, Germany.
Tomoki KawaiShizuoka Children's Hospital, Shizuoka, Department of Allergy and Clinical Immunology, Japan.
Marita BosticardoImmune Deficiency Genetics Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, USA.
Ottavia Maria DelmonteImmune Deficiency Genetics Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, USA.
Stuart AdamsSIHMDS-Haematology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Yu-Tong FanGreat Ormond Street Institute of Child Health, Infection, Immunity and Inflammation Research & Teaching Department, University College London, London, United Kingdom.
Francesca PalaImmune Deficiency Genetics Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, USA.
Ayberk TurkyilmazDepartment of Medical Genetics, Faculty of Medicine, Karadeniz Technical University Trabzon, Turkey.
Evey HowleyDepartment of Immunology and Gene therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Austen WorthDepartment of Immunology and Gene therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Hakan KotDepartment of Pediatrics, Division of Pediatric Allergy and Immunology, Faculty of Medicine, Karadeniz Technical University Trabzon, Turkey.
Asena Pinar SeferDivision of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.
Altan KaraTUBITAK Marmara Research Center, Gene Engineering and Biotechnology Institute, Gebze, Turkey.
Alper BulutogluDivision of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.
Sevgi Bilgic-EltanDivision of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.
Melek Yorgun AltunbasDivision of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.
Feyza Bayram CatakDivision of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.
Ibrahim Serhat KarakusSchool of Medicine, Marmara University, Istanbul, Turkey.
Emrah KaratayDepartment of Radiology, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey.
Sidem Didar TekeogluCan Sucak, Research Laboratory for Translational Immunology, Center for Genomics and Rare Diseases, Hacettepe University, Ankara, Turkey; Department of Pediatric Immunology, Hacettepe University, Ankara, Turkey.
Metin EserDepartment of Medical Genetics, Umraniye Education and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Davut AlbayrakDepartment of Pediatrics, Division of Pediatric Hematology, Medicalpark Hospital, Samsun, Turkey.
Senol CitliDepartment of Medical Genetics, Faculty of Medicine, Recep Tayyip Erdogan University, Rize, Turkey.
Ayca KiykimDepartment of Pediatrics, Division of Pediatric Allergy and Immunology, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Elif Karakoc-AydinerDivision of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.
Ahmet OzenDivision of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.
Sujal GhoshDepartment for Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich Heine University, Düsseldorf, Germany.
Holger GohlkeInstitute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University, Düsseldorf, Germany; Institute of Bio- and Geosciences (IBG-4: Bioinformatics), Forschungszentrum Jülich GmbH, Jülich, Germany.
Fazil OrhanDepartment of Pediatrics, Division of Pediatric Allergy and Immunology, Faculty of Medicine, Karadeniz Technical University Trabzon, Turkey.
Luigi D NotarangeloImmune Deficiency Genetics Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, USA.
E Graham DaviesGreat Ormond Street Institute of Child Health, Infection, Immunity and Inflammation Research & Teaching Department, University College London, London, United Kingdom; Department of Immunology and Gene therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Safa BarisDivision of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey. Electronic address: safabaris@hotmail.com.
Marmara University · TRNational Institute of Allergy and Infectious Diseases · USKaradeniz Technical University · TRGreat Ormond Street Hospital for Children NHS Foundation Trust · GBUniversity College London · GBErciyes University · TRHacettepe University · TRHeinrich Heine University Düsseldorf · DERecep Tayyip Erdoğan University · TRSağlık Bilimleri Üniversitesi · TRShizuoka Children's Hospital · JPTÜBİTAK Marmara Research Center · TR
Funding
Department of HealthWellcome Trust 222096/Z/20/Z
Abstract
Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naïve T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34
Indexed as
Paired Box Transcription FactorsSevere Combined ImmunodeficiencyHumansPhenotypeThymus GlandT-LymphocytesPaired Box Transcription FactorsHypoparathyroidismInborn errors of immunityOtofaciocervical syndromePAX1SCIDthymus
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.