Literature summary for 2.4.2.1 extracted from

Aytekin, C.; Dogu, F.; Tanir, G.; Guloglu, D.; Santisteban, I.; Hershfield, M.S.; Ikinciogullari, A.
Purine nucleoside phosphorylase deficiency with fatal course in two sisters (2010), Eur. J. Pediatr., 169, 311-314.

Search for more literature for 2.4.2.1

Application

Application	Comment	Organism
medicine	mutation A117 leads to purine-nucleoside phosphorylase deficiency. Mutation occured in two sisters with a fatal course due to delay in diagnosis. The first patient developed a liver abscess by Aspergillus fumigatus and the second patient developed Mycobacterium tuberculosis complex lymphadenitis and probable pulmonary tuberculosis due to disseminated BCG infection. The patients also suffered from sclerosing cholangitis	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A117T	mutation leading to purine-nucleoside phosphorylase deficiency, occuring in two sisters	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)