Mutational landscape of severe combined immunodeficiency patients from Turkey

Author:

Firtina Sinem12ORCID,Yin Ng Yuk3,Hatirnaz Ng Ozden14,Kiykim Ayca5,Aydiner Elif5,Nepesov Serdar6,Camcioglu Yildiz7,Sayar Esra H.8,Reisli Ismail8,Torun Selda H.9,Cogurlu Tuba10,Uygun Dilara11,Simsek Isil E.12,Kaya Aysenur13,Cipe Funda14,Cagdas Deniz15,Yucel Esra16,Cekic Sukru17,Uygun Vedat18,Baris Safa5,Ozen Ahmet5,Ozbek Ugur19,Sayitoglu Muge1

Affiliation:

1. Department of Genetics Aziz Sancar Institute of Experimental MedicineIstanbul University Istanbul Turkey

2. Department of Molecular Biology and Genetics, Art and Science Faculty Istinye University Istanbul Turkey

3. Department of Genetics and Bioengineering Istanbul Bilgi University Istanbul Turkey

4. Department of Medical Biology School of Medicine Acibadem Mehmet Ali Aydinlar University Istanbul Turkey

5. Department of Pediatric Allergy and Immunology Marmara University Istanbul Turkey

6. Department of Pediatric Allergy and Immunology Medipol University Istanbul Turkey

7. Department of Infectious Diseases and Clinical Immunology Istanbul University‐Cerrahpasa Istanbul Turkey

8. Department of Pediatric Immunology and Allergy Meram Medical Faculty Necmettin Erbakan University Konya Turkey

9. Department of Clinical Immunology Istanbul School of Medicine Istanbul University Istanbul Turkey

10. Department of Pediatric Allergy and Immunology Kocaeli University Kocaeli Turkey

11. Department of Pediatric Allergy and Immunology Antalya Training and Research Hospital Antalya Turkey

12. Department of Pediatric Allergy and Immunology Kartal Dr. Lutfi Kirdar Training and Research Hospital Istanbul Turkey

13. Department of Pediatric Allergy and Immunology Istinye University Istanbul Turkey

14. Department of Pediatric Allergy and Infection Istanbul Kanuni Sultan Suleyman Training and Research Hospital Istanbul Turkey

15. Department of Pediatric Immunology Hacettepe School of Medicine Hacettepe University Ankara Turkey

16. Department of Pediatric Allergy and Immunology Istanbul School of Medicine Istanbul University Istanbul Turkey

17. Department of Pediatric Immunology Uludag University School of Medicine Bursa Turkey

18. Bone Marrow Transplantation UnitMedical Park Hospital Antalya Turkey

19. Department of Medical Genetics School of Medicine Acibadem Mehmet Ali Aydinlar University Istanbul Turkey

Funder

Bilimsel Araştirma Projeleri Birimi, Istanbul Üniversitesi

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine,Immunology

Reference40 articles.

1. A method and server for predicting damaging missense mutations

2. Primary immunodeficiency diseases: An update on the classification from the international union of immunological societies expert committee for primary immunodeficiency;Al‐Herz W.;Frontiers in Immunology,2014

3. Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases

4. Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter

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