Immunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant.
Adenosine deaminase deficiency
hypouricemia
purine nucleoside phosphorylase deficiency
severe combined immunodeficiency
Journal
Annals of Indian Academy of Neurology
ISSN: 0972-2327
Titre abrégé: Ann Indian Acad Neurol
Pays: India
ID NLM: 101273955
Informations de publication
Date de publication:
Historique:
entrez:
23
4
2019
pubmed:
23
4
2019
medline:
23
4
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31007444
doi: 10.4103/aian.AIAN_430_17
pii: AIAN-22-231
pmc: PMC6472228
doi:
Types de publication
Case Reports
Langues
eng
Pagination
231-233Déclaration de conflit d'intérêts
There are no conflicts of interest
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