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Two patients with novel missense mutation in the purine nucleoside phosphorylase gene without serious or recurrent infections
Author(s) -
Kiykim Ayca,
Simsek Isil Eser,
Kiykim Ertugrul,
KarakocAydiner Elif,
Baris Safa,
Ozen Ahmet Oguzhan,
Aydogan Metin,
Santisteban Ines,
Hershfield Michael,
Barlan Isil
Publication year - 2016
Publication title -
clinical and experimental neuroimmunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.297
H-Index - 15
ISSN - 1759-1961
DOI - 10.1111/cen3.12254
Subject(s) - purine nucleoside phosphorylase , missense mutation , inosine , hypoxanthine guanine phosphoribosyltransferase , nucleotide salvage , medicine , purine , exon , hypoxanthine , purine metabolism , guanosine , mutation , biology , immunology , gene , biochemistry , enzyme , mutant , adenosine , nucleotide
Background Purine nucleoside phosphorylase ( PNP ) deficiency is characterized by T – B + NK + combined immune deficiency, presenting with neurological deterioration and recurrent infections. PNP is an essential enzyme taking a part in the purine salvage pathway, converting inosine to hypoxanthine, and guanosine to guanine reversibly. Case presentation We described two patients with PNP deficiency caused by a novel point mutation in exon 5: c.593 C>T, predicting the p.P198L amino acid substitution. Both patients presented with developmental delay and severe lymphopenia without any serious recurrent infections. Conclusions Children with developmental delay and hypouricemia should be screened for PNP deficiency, especially in the presence of lymphopenia.