Recurrent infections, neurologic signs, low serum uric acid levels, and lymphopenia in childhood: Purine nucleoside phosphorylase deficiency, an emergency for infants

Purine nucleoside phosphorylase deficiency is one of the severe combined immunodeficiencies, which often clinically manifests with recurrent infections, neurologic symptoms and autoimmune diseases, and leads to thymocyte development and peripheral T cell activation defects. It is an immunologic emer...

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Bibliographische Detailangaben
Veröffentlicht in:Turk Pediatri Ars
Hauptverfasser: Kütükçüler, Necil, Bölük, Ezgi, Tökmeci, Nazan, Karaca, Neslihan Edeer, Azarsız, Elif, Aksu, Güzide, Aykut, Ayça
Format: Artigo
Sprache:Inglês
Veröffentlicht: Kare Publishing 2020
Schlagworte:
Case Report / Olgu Sunumu
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7536453/
https://ncbi.nlm.nih.gov/pubmed/33061764
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14744/TurkPediatriArs.2019.83788
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