Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India
MR Madkaikar, S Kulkarni, P Utage, L Fairbanks… - Case …, 2011 - casereports.bmj.com
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 …
time from India. The case presented with recurrent severe infections, developmental delays …
Novel mutations and hot‐spots in patients with purine nucleoside phosphorylase deficiency
E Grunebaum, J Zhang, CM Roifman - … , Nucleotides and Nucleic …, 2004 - Taylor & Francis
Purine nucleoside phosphorylase (PNP) deficiency results in severe immune dysfunction
and early death from infections. Lymphopenia, reduced serum uric acid, and abnormal PNP …
and early death from infections. Lymphopenia, reduced serum uric acid, and abnormal PNP …
Purine nucleoside phosphorylase deficiency: a mutation update
PLC Walker, A Corrigan, M Arenas… - … and Nucleic Acids, 2011 - Taylor & Francis
Purine nucleoside phosphorylase (PNPase) deficiency is an autosomal recessive disorder
affecting purine degradation and salvage pathways. Clinically, patients typically present with …
affecting purine degradation and salvage pathways. Clinically, patients typically present with …
The first report of a pregnancy in a patient with purine nucleoside phosphorylase deficiency
J Martin, R Sharma, RP Nelson… - Fetal and Pediatric …, 2016 - Taylor & Francis
Background: The cause of primary immunodeficiency has expanded to nearly 200 distinct
disorders. An improved understanding of these disorders has resulted in decreased …
disorders. An improved understanding of these disorders has resulted in decreased …
An approach to the restoration of T cell function in a purine nucleoside phosphorylase deficient patient
BJM Zegers, JW Stoop, GEJ Staal… - Enzyme defects and …, 1979 - Wiley Online Library
A patient with a selective impairment of T cell-dependent immunity based on a purine
nucleoside phosphorylase (PNP) deficiency has been treated with transfusions of irradiated …
nucleoside phosphorylase (PNP) deficiency has been treated with transfusions of irradiated …
Purine Nucleoside Phosphorylase Deficiency: EVIDENCE FOR MOLECULAR HETEROGENEITY IN TWO FAMILIES WITH ENZYME-DEFICIENT MEMBERS
WRA Osborne, SH Chen, ER Giblett… - The Journal of …, 1977 - Am Soc Clin Investig
Purine-nucleoside phosphorylase (NP) deficiency is associated with severely defective
thymus-derived (T)-cell and normally functioning bone marrow-derived (B)-cell immunity. In …
thymus-derived (T)-cell and normally functioning bone marrow-derived (B)-cell immunity. In …
[HTML][HTML] Immunodeficiency, motor delay, and hypouricemia caused by a novel mutation of purine nucleoside phosphorylase gene in an Indian infant
N Shah, L Lingappa, R Konanki, S Rani… - Annals of Indian …, 2019 - journals.lww.com
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 …
months of age. His elder sister died at 10 months with severe septicemia and meningitis …
Purine nucleoside phosphorylase (PNP) deficiency: a therapeutic challenge
AR Watson, HA Simmonds, DR Webster… - Purine Metabolism in …, 1984 - Springer
Purine nucleoside phosphorylase (PNP: EC 2.4. 2.1) deficiency appears to result in a
predominantly T cell immune defect 1. Lack of the PNP enzyme leads to the inability to …
predominantly T cell immune defect 1. Lack of the PNP enzyme leads to the inability to …
[HTML][HTML] Upfront enzyme replacement via erythrocyte transfusions for PNP deficiency
A Eichinger, H von Bernuth, C Dedieu… - Journal of clinical …, 2021 - Springer
To the Editor, Purine nucleoside phosphorylase (PNP) deficiency is a rare metabolic
disorder leading to combined immunodeficiency (CID) and neurological deficits such as …
disorder leading to combined immunodeficiency (CID) and neurological deficits such as …