The Broad Clinical Spectrum and Transplant Results of PNP Deficiency
| Autor: | Bella Shadur, Irina Zaidman, Yael Dinur Schejter, Adeeb NaserEddin, Ehud Even-Or, Polina Stepensky |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male Pediatrics medicine.medical_specialty Purine-Pyrimidine Metabolism Inborn Errors Transplantation Conditioning medicine.medical_treatment Primary Immunodeficiency Diseases Immunology Purine nucleoside phosphorylase Hematopoietic stem cell transplantation Disease 03 medical and health sciences 0302 clinical medicine Medical microbiology Immune system medicine Immunology and Allergy Humans Israel Immunodeficiency Bone Marrow Transplantation Retrospective Studies business.industry Hematopoietic Stem Cell Transplantation Infant medicine.disease Lymphoma surgical procedures operative 030104 developmental biology Purine-Nucleoside Phosphorylase PNP Deficiency Child Preschool Female Severe Combined Immunodeficiency business 030215 immunology |
| Zdroj: | Journal of clinical immunology. 40(1) |
| ISSN: | 1573-2592 |
| Popis: | Purine nucleoside phosphorylase (PNP) is a known yet rare cause of combined immunodeficiency with a heterogeneous clinical presentation. We aim to add to the expanding clinical spectrum of disease, and to summarize the available data on bone marrow transplant for this condition. Data was collected from patient files retrospectively. A review of the literature of hematopoietic stem cell transplantation (HSCT) for PNP deficiency was conducted. Four patients were treated in two centers in Israel. One patient died of EBV-related lymphoma with CNS involvement prior to transplant. The other three patients underwent successful HSCT with good immune reconstitution post-transplant (follow-up 8–108 months) and excellent neurological outcomes. PNP is a variable immunodeficiency and should be considered in various clinical contexts, with or without neurological manifestations. HSCT offers a good treatment option, with excellent clinical outcomes, when preformed in a timely manner. |
| Databáze: | OpenAIRE |
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