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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| Published in | Turk Pediatri Arsivi Vol. 55; no. 3; pp. 320 - 327 |
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| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Istanbul
Aves Yayincilik Ltd. STI
01.09.2020
Kare Publishing |
| Subjects | |
| Online Access | Get full text |
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| Summary: | 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 emergency for childhood. In this case series, four cases with purine nucleoside phosphorylase deficiency were evaluated. Recurrent febrile infections and neuromotor developmental retardation were among the presenting symptoms in all cases. Absolute lymphocyte counts and serum uric acid levels were very low, and serum immunoglobulin levels were normal or slightly lower in all cases. The genetic molecular analysis of four patients revealed three predefined mutations in the purine nucleoside phosphorylase gene. Three of the four patients were lost due to sepsis during follow-up, and one patient was lost due to veno-occlusive disease in the post-hematopoietic stem cell transplantation period. We presented these cases to emphasize that purine nucleoside phosphorylase deficiency should always be considered in patients with frequent recurrent infections, neurologic findings, low serum uric acid levels, and lymphopenia. |
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| Bibliography: | Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive disease that causes severe combined immunodeficiency. Patients present with frequently recurring infections, autoimmunity, growth and developmental retardation and neurologic findings in early childhood. The diagnosis is made by demonstrating deficiency of PNP activity or through PNP gene analysis. The association of T cell defects and a reduced level of serum uric acid is a warning. The only curative treatment is hematopoietic stem cell transplantation. In this study, four patients with a diagnosis of PNP deficiency are presented with similar and different characteristics. In contrast to the literature, two of the patients were diagnosed before the age of one year and warning clinical and laboratory findings, which should be watched for early diagnosis, were emphasized. PNP deficiency is an immunologic emergency and should be diagnosed urgently. The number of studies related to genetic counselling and prenatal diagnosis should be increased. The known about this topic Contribution of the study |
| ISSN: | 1306-0015 2757-6256 1308-6278 |
| DOI: | 10.14744/TurkPediatriArs.2019.83788 |