A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency
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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 . Deleterious variants in more than 20 genes have been implicated in SCID . 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 . Due to the pleiotropic effects of FOXN1, the patients present with non-immunological features in addition to the classical T−B+NK+ SCID, with mainly the skin and hair being affected including abnormal hair keratinization and absence of hair .
FOXN1gene (located in 17q11.2) encodes a transcription factor that regulates the development, differentiation, and function...
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.
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.
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