Annals of the Indian Academy of Neurology, 2019-04, Vol.22 (2), p.231-233
2019
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Details
- Autor(en) / Beteiligte
- Titel
- Immunodeficiency, motor delay, and hypouricemia caused by a novel mutation of purine nucleoside phosphorylase gene in an Indian infant
- Ist Teil von
- Annals of the Indian Academy of Neurology, 2019-04, Vol.22 (2), p.231-233
- Ort / Verlag
- India: Wolters Kluwer India Pvt. Ltd
- Erscheinungsjahr
- 2019
- Quelle
- EZB Free E-Journals
- Beschreibungen/Notizen
- We describe an 11-month-old boy who presented with recurrent respiratory infections from 6 months of age. His elder sister died at 10 months with severe septicemia and meningitis. The boy had a mild motor delay. Investigations revealed T cell deficiency and very low serum uric acid suggestive of purine nucleoside phosphorylase (PNP) deficiency - a rare variant of severe combined immunodeficiency disease. A novel homozygous missense mutation of c.597C>G(p. S199R) of exon 5 on PNP gene confirmed the diagnosis. We suggest that uric acid should be a part of investigation profile for unidentified motor delay, as recurrent infections can be late presentation.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0972-2327eISSN: 1998-3549DOI: 10.4103/aian.AIAN_430_17Titel-ID: cdi_doaj_primary_oai_doaj_org_article_dfd6134980bb46e280c89485e854c168
- Format
- –
- Schlagworte
- Adenosine deaminase deficiency, Age, Alkaloids, Antibiotics, BCG, Blood, Bone marrow, Case Reports, Consent, Gene mutation, Genes, Genetic aspects, Genomes, Health aspects, hypouricemia, Immunodeficiency, Infants, Infections, Lung diseases, Lymphocytes, Lymphocytes T, Meningitis, Missense mutation, Mutation, Novels, Nucleosides, Phosphorylase, Pnp gene, Proteins, purine nucleoside phosphorylase deficiency, Purines, Recurrence (Disease), Respiratory tract diseases, Sepsis, Septicemia, Severe combined immunodeficiency, Stem cells, T cells, Transplants & implants, Uric acid