Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency with two novel mutations: a case report and review of literature
Purpose: We report the case of a 6-year-old boy who presented with muscular hypertonia, impaired growth, and recurrent infections, who was diagnosed with purine nucleoside phosphorylase (PNP) deficiency with two novel mutations in the PNP gene. He underwent a hematopoietic stem cell transplantation...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2025-12-01
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| Series: | Hematology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2024.2445404 |
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| author | Minyuan Liu Qi Ji Senlin Zhang Jing Qian Bohan Li Jie Li Peifang Xiao Shaoyan Hu |
| author_facet | Minyuan Liu Qi Ji Senlin Zhang Jing Qian Bohan Li Jie Li Peifang Xiao Shaoyan Hu |
| author_sort | Minyuan Liu |
| collection | DOAJ |
| description | Purpose: We report the case of a 6-year-old boy who presented with muscular hypertonia, impaired growth, and recurrent infections, who was diagnosed with purine nucleoside phosphorylase (PNP) deficiency with two novel mutations in the PNP gene. He underwent a hematopoietic stem cell transplantation (HSCT) from an unrelated donor, and we observed the clinical outcome.Methods: We retrospectively analyzed the clinical manifestations and outcomes of this patient who underwent HSCT. We analyzed the results of whole exome sequencing (WES) on the patient.Results: The patient experienced repeated serious respiratory and gastrointestinal infections since birth and presented with neurological symptoms. He was found to have two novel pathogenic mutations in the PNP gene through WES. One hemizygous variant was c.385dup (p.Ile129Asnfs*6) in exon 4. The other was a heterozygous deletion in exon 2-6. He underwent HSCT with clinical improvement.Conclusions: We presented a patient with two novel mutations in the PNP gene and clinical improvement following an allo-HSCT. |
| format | Article |
| id | doaj-art-b55dfc9fdfdf431e8914502db3794169 |
| institution | Kabale University |
| issn | 1607-8454 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Hematology |
| spelling | doaj-art-b55dfc9fdfdf431e8914502db37941692025-01-08T14:05:50ZengTaylor & Francis GroupHematology1607-84542025-12-0130110.1080/16078454.2024.2445404Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency with two novel mutations: a case report and review of literatureMinyuan Liu0Qi Ji1Senlin Zhang2Jing Qian3Bohan Li4Jie Li5Peifang Xiao6Shaoyan Hu7Department of Hematology & Oncology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaDepartment of Hematology & Oncology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaDepartment of Hematology & Oncology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaDepartment of Hematology & Oncology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaDepartment of Hematology & Oncology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaDepartment of Hematology & Oncology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaDepartment of Hematology & Oncology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaDepartment of Hematology & Oncology, Children’s Hospital of Soochow University, Suzhou, People’s Republic of ChinaPurpose: We report the case of a 6-year-old boy who presented with muscular hypertonia, impaired growth, and recurrent infections, who was diagnosed with purine nucleoside phosphorylase (PNP) deficiency with two novel mutations in the PNP gene. He underwent a hematopoietic stem cell transplantation (HSCT) from an unrelated donor, and we observed the clinical outcome.Methods: We retrospectively analyzed the clinical manifestations and outcomes of this patient who underwent HSCT. We analyzed the results of whole exome sequencing (WES) on the patient.Results: The patient experienced repeated serious respiratory and gastrointestinal infections since birth and presented with neurological symptoms. He was found to have two novel pathogenic mutations in the PNP gene through WES. One hemizygous variant was c.385dup (p.Ile129Asnfs*6) in exon 4. The other was a heterozygous deletion in exon 2-6. He underwent HSCT with clinical improvement.Conclusions: We presented a patient with two novel mutations in the PNP gene and clinical improvement following an allo-HSCT.https://www.tandfonline.com/doi/10.1080/16078454.2024.2445404Purine nucleoside phosphorylase deficiencyWESmutationhematopoietic stem cell transplantationlymphocyte countinfection |
| spellingShingle | Minyuan Liu Qi Ji Senlin Zhang Jing Qian Bohan Li Jie Li Peifang Xiao Shaoyan Hu Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency with two novel mutations: a case report and review of literature Hematology Purine nucleoside phosphorylase deficiency WES mutation hematopoietic stem cell transplantation lymphocyte count infection |
| title | Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency with two novel mutations: a case report and review of literature |
| title_full | Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency with two novel mutations: a case report and review of literature |
| title_fullStr | Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency with two novel mutations: a case report and review of literature |
| title_full_unstemmed | Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency with two novel mutations: a case report and review of literature |
| title_short | Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency with two novel mutations: a case report and review of literature |
| title_sort | hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency with two novel mutations a case report and review of literature |
| topic | Purine nucleoside phosphorylase deficiency WES mutation hematopoietic stem cell transplantation lymphocyte count infection |
| url | https://www.tandfonline.com/doi/10.1080/16078454.2024.2445404 |
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