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Journal of Clinical Immunology

, Volume 39, Issue 2, pp 144–147 | Cite as

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

  • Sinem Firtina
  • Funda Cipe
  • Yuk Yin Ng
  • Ayca Kiykim
  • Ozden Hatirnaz Ng
  • Tugce Sudutan
  • Cigdem Aydogmus
  • Safa Baris
  • Gulyuz Ozturk
  • Elif Aydiner
  • Ahmet Ozen
  • Muge SayitogluEmail author
Letter to Editor
  • 61 Downloads

To the Editor,

Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) caused by gene variants that lead to a failure of functional T cell development, with or without accompanying defects in the production of B and/or NK cells [1]. Deleterious variants in more than 20 genes have been implicated in SCID [2]. The FOXN1 (Forkhead Box N1) deficiency, also known as the nude SCID, is a very rare autosomal recessive form of SCIDs. It has a unique phenotype with severe T cell immunodeficiency with normal B and NK cells, thymus dysgenesis, congenital alopecia, and nail dystrophy [3]. Due to the pleiotropic effects of FOXN1, the patients present with non-immunological features in addition to the classical TB+NK+ SCID, with mainly the skin and hair being affected including abnormal hair keratinization and absence of hair [4].

FOXN1gene (located in 17q11.2) encodes a transcription factor that regulates the development, differentiation, and function...

Notes

Acknowledgements

We would like to thank to Monica Ann Ozkan, MSN, RN, and CPAN (Bezmialem Vakif University) in language editing for this paper and Dr. Luisa Imberti from Laboratorio CREA, AO Spedali Civili di Brescia for providing the TREC-KREC-TRAC plasmid.

Funding Information

This project is supported by Istanbul University Research Fund (No: 52575 and 20499) and Istanbul Bilgi University [Y.Y Ng, 2017)].

Compliance with Ethical Standards

Conflict of Interest

The authors declare no conflict of interest.

Supplementary material

10875_2019_615_MOESM1_ESM.docx (9.6 mb)
ESM 1 (DOCX 9848 kb)

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Sinem Firtina
    • 1
    • 2
  • Funda Cipe
    • 3
  • Yuk Yin Ng
    • 4
  • Ayca Kiykim
    • 5
  • Ozden Hatirnaz Ng
    • 1
    • 6
  • Tugce Sudutan
    • 1
  • Cigdem Aydogmus
    • 3
  • Safa Baris
    • 7
  • Gulyuz Ozturk
    • 8
  • Elif Aydiner
    • 7
  • Ahmet Ozen
    • 7
  • Muge Sayitoglu
    • 1
    Email author
  1. 1.Department of Genetics, Aziz Sancar Institute of Experimental MedicineIstanbul UniversityIstanbulTurkey
  2. 2.Department of Molecular Biology and GeneticsIstinye UniversityIstanbulTurkey
  3. 3.Department of Pediatric Allergy and InfectionIstanbul Kanuni Sultan Suleyman Training and Research HospitalIstanbulTurkey
  4. 4.Department of Genetics and BioengineeringIstanbul Bilgi UniversityIstanbulTurkey
  5. 5.Department of Pediatric Allergy and InfectionIstanbul University Cerrahpasa Medical FacultyIstanbulTurkey
  6. 6.Department of Medical BiologyAcibadem Mehmet Ali Aydinlar University Medical Faculty IstanbulIstanbulTurkey
  7. 7.Department of Pediatric Allergy and ImmunologyMarmara UniversityIstanbulTurkey
  8. 8.Pediatric Bone Marrow Transplantation UnitAcibadem Atakent HospitalIstanbulTurkey

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