Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India

The authors report a case of purine nucleoside phosphorylase (PNP) deficiency for the first time from India. The case presented with recurrent severe infections, developmental delays, seizures and progressive neurological deterioration. The diagnosis of primary immunodeficiency disorder was delayed...

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Bibliographic Details
Published in:BMJ case reports 2011-12, Vol.2011 (dec08 1), p.bcr0920114804-bcr0920114804
Main Authors: Madkaikar, Manisha Rajan, Kulkarni, Shilpa, Utage, Prashant, Fairbanks, Lynette, Ghosh, Kanjaksha, Marinaki, Anthony, Desai, Mukesh
Format: Article
Language:English
Subjects:
Asia
Defects
Enzymes
Female
Humans
Immunoglobulins
Immunology
India
Indian Subcontinent
Infant
Infections
Lymphocytes
Meningitis
Mutation
Patients
Purine-Nucleoside Phosphorylase - deficiency
Purine-Nucleoside Phosphorylase - genetics
Purine-Pyrimidine Metabolism, Inborn Errors - genetics
Rare Disease
Severe Combined Immunodeficiency - genetics
Uric acid
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Summary:The authors report a case of purine nucleoside phosphorylase (PNP) deficiency for the first time from India. The case presented with recurrent severe infections, developmental delays, seizures and progressive neurological deterioration. The diagnosis of primary immunodeficiency disorder was delayed in spite of recurrent infection due to predominant neurological symptoms. Sequencing of the PNP gene revealed a novel mutation resulting in a premature stop codon.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr.09.2011.4804