Purine nucleoside phosphorylase (PNP) deficiency: across-the-board severe combined immunodeficiency

Abstract Background Purine nucleoside phosphorylase (PNP) deficiency is a rare, autosomal recessive, inborn error of immunity. It is characterized by progressive immune abnormalities ranging from severe combined immunodeficiency (SCID) to combined immunodeficiency less profound than SCID, neurologic...

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Bibliographic Details

Published in:	Egyptian Journal of Medical Human Genetics
Main Authors:	Engy A. Chohayeb, Sohilla Lotfy, Rabab E. El Hawary, Safa S. Meshaal, Iman A. Mansour, Nermeen M. Galal, Aisha M. Elmarsafy
Format:	Article
Language:	English
Published:	SpringerOpen 2024-09-01
Subjects:	Hematopoietic stem cell transplantation (HSCT) Inborn errors of immunity (IEI) Purine nucleoside phosphorylase deficiency (PNP) Severe combined immunodeficiency (SCID)
Online Access:	https://doi.org/10.1186/s43042-024-00581-8