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Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients

Basak Torun, Ahmet İsmail Bilgin, Dıclehan Orhan, Rahşan Göçmen, Sebnem Sara Kiliç, Barış Kuşkonmaz, Duygu Uçkan, İlhan Tezcan, Deniz Çağdaş

2022European Journal of Medical Genetics18 citationsDOI

Topics & Concepts

Purine nucleoside phosphorylaseSevere combined immunodeficiencyHematopoietic stem cell transplantationMedicineFailure to thriveImmunodeficiencyPrimary immunodeficiencyPurineSalvage therapyLymphomaInternal medicineImmunologyPediatricsTransplantationChemotherapyBiologyEnzymeDiseaseGeneImmune systemBiochemistryBiochemical and Molecular ResearchCytomegalovirus and herpesvirus researchPneumocystis jirovecii pneumonia detection and treatment
Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients | Litcius