Biallelic Form of a Known CD3E Mutation in a Patient with Severe Combined Immunodeficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
http://link.springer.com/content/pdf/10.1007/s10875-020-00752-3.pdf
Reference13 articles.
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3. Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM. Severe combined immunodeficiencies and related disorders. Nat Rev Dis Primers. 2015;1:15061.
4. Firtina S, Ng YY, Ng OH, Nepesov S, Yesilbas O, Kilercik M, et al. A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey. Immunogenetics. 2017;69(10):653–9.
5. Soudais C, de Villartay JP, Le Deist F, Fischer A, Lisowska-Grospierre B. Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. Nat Genet. 1993;3(1):77–81.
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