Associated Papers
Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study.
Herrmann US et al.
Blood, 2026
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
Tuovinen EA et al.
Journal of Clinical Immunology, 2020
32072341 (PubMed )
Supplement: 10875_2020_745_MOESM3_ESM.docx
Recurrent infections, neurologic signs, low serum uric acid levels, and lymphopenia in childhood: Purine nucleoside phosphorylase deficiency, an emergency for infants.
Kütükçüler N et al.
Turk Pediatri Arsivi, 2020
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