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 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.
Paediatric Immunology and Leukocyte Biology Department, National Institute of Immunohaematology, Mumbai, India. madkaikarmanisha@yahoo.co.in
Manisha Rajan
MR
Madkaikar
Shilpa
S
Kulkarni
Prashant
P
Utage
Lynette
L
Fairbanks
Kanjaksha
K
Ghosh
Anthony
A
Marinaki
Mukesh
M
Desai
D005260:Female; D006801:Humans; D007194:India; D007223:Infant; D009154:Mutation; D000081207:Primary Immunodeficiency Diseases; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency / Q000235:genetics*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000235:genetics*
D011683:Purine-Nucleoside Phosphorylase