A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency

J Clin Immunol. 2019 Feb;39(2):144-147. doi: 10.1007/s10875-019-00615-6. Epub 2019 Mar 22.

Authors

Sinem Firtina^{1

2}, Funda Cipe³, Yuk Yin Ng⁴, Ayca Kiykim⁵, Ozden Hatirnaz Ng^{1

6}, Tugce Sudutan¹, Cigdem Aydogmus³, Safa Baris⁷, Gulyuz Ozturk⁸, Elif Aydiner⁷, Ahmet Ozen⁷, Muge Sayitoglu⁹

Affiliations

¹ Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
² Department of Molecular Biology and Genetics, Istinye University, Istanbul, Turkey.
³ Department of Pediatric Allergy and Infection, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
⁴ Department of Genetics and Bioengineering, Istanbul Bilgi University, Istanbul, Turkey.
⁵ Department of Pediatric Allergy and Infection, Istanbul University Cerrahpasa Medical Faculty, Istanbul, Turkey.
⁶ Department of Medical Biology, Acibadem Mehmet Ali Aydinlar University Medical Faculty Istanbul, Istanbul, Turkey.
⁷ Department of Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey.
⁸ Pediatric Bone Marrow Transplantation Unit, Acibadem Atakent Hospital, Istanbul, Turkey.
⁹ Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey. [email protected].

PMID: 30903456
DOI: 10.1007/s10875-019-00615-6

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Consanguinity
Female
Forkhead Transcription Factors / genetics*
Humans
Infant
Male
Severe Combined Immunodeficiency / genetics*
Siblings
Turkey

Substances

Forkhead Transcription Factors
Whn protein