A novel foxn1 variant is identified in two siblings with nude severe combined immunodeficiency

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Date
2019Author
Firtina, SinemErol Cipe, Funda
Ng, Yuk Yin
Kiykim, Ayca
Ng, Ozden Hatirnaz
Sudutan, Tugce
Aydogmus, Cigdem
Baris, Safa
Ozturk, Gulyuz
Aydiner, Elif
Ozen, Ahmet
Sayitoglu, Muge
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Firtina, S., Cipe, F., Ng, Y. Y., Kiykim, A., Ng, O. H., Sudutan, T., … Sayitoglu, M. (2019). A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency. JOURNAL OF CLINICAL IMMUNOLOGY, 39(2), 144–147. https://doi.org/10.1007/s10875-019-00615-6Abstract
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