Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning
CF Classen, AS Schulz, M Sigl-Kraetzig… - Bone marrow …, 2001 - nature.com
PNP deficiency is an autosomal recessive metabolic disorder characterized by severe
combined immunodeficiency and by complex neurological symptomatology including ataxia …
combined immunodeficiency and by complex neurological symptomatology including ataxia …
A successful unrelated peripheral blood stem cell transplantation with reduced intensity‐conditioning regimen in a patient with late‐onset purine nucleoside …
PNP deficiency is a rare combined immunodeficiency with autosomal recessive mode of
inheritance. The immunodeficiency is progressive with normal immune functions at birth, but …
inheritance. The immunodeficiency is progressive with normal immune functions at birth, but …
Successful HLA‐identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency
S Delicou, V Kitra‐Roussou, J Peristeri… - Pediatric …, 2007 - Wiley Online Library
PNP deficiency is an autosomal recessive metabolic disorder characterized by severe
combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of …
combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of …
An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication
C Aytekin, M Yuksek, F Dogu, A Yagmurlu… - Pediatric …, 2008 - Wiley Online Library
Purine nucleoside phosphorylase deficiency is a rare immunodeficiency syndrome
characterized by recurrent infections, neurological dysfunction, and autoimmunity. Early …
characterized by recurrent infections, neurological dysfunction, and autoimmunity. Early …
The broad clinical spectrum and transplant results of PNP deficiency
YD Schejter, E Even-Or, B Shadur… - Journal of clinical …, 2020 - Springer
Purpose Purine nucleoside phosphorylase (PNP) is a known yet rare cause of combined
immunodeficiency with a heterogeneous clinical presentation. We aim to add to the …
immunodeficiency with a heterogeneous clinical presentation. We aim to add to the …
Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: outcome of three patients
Purine nucleoside phosphorylase (PNP) is a key enzyme in the purine salvage pathway.
PNP deficiency, caused by the autosomal recessive mutations in the PNP gene, can lead to …
PNP deficiency, caused by the autosomal recessive mutations in the PNP gene, can lead to …
Novel genetic mutations in the first Swedish patient with purine nucleoside phosphorylase deficiency and clinical outcome after hematopoietic stem cell …
N Brodszki, M Svensson, ABP van Kuilenburg… - JIMD Reports, Volume …, 2015 - Springer
Purine nucleoside phosphorylase (PNP) is an enzyme active in the purine salvage pathway.
PNP deficiency caused by autosomal recessive mutations in the PNP gene leads to severe …
PNP deficiency caused by autosomal recessive mutations in the PNP gene leads to severe …
Infusion of sibling marrow in a patient with purine nucleoside phosphorylase deficiency leads to split mixed donor chimerism and normal immunity
L Yeates, MA Slatter, AR Gennery - Frontiers in pediatrics, 2017 - frontiersin.org
Purine nucleoside phosphorylase (PNP) deficiency, a rare autosomal recessive metabolic
disease causes combined immunodeficiency and developmental delay, hypotonia, and …
disease causes combined immunodeficiency and developmental delay, hypotonia, and …
Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology
Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive metabolic
disorder characterized by severe combined immunodeficiency and by complex neurologic …
disorder characterized by severe combined immunodeficiency and by complex neurologic …
Cross correction following haemopoietic stem cell transplant for purine nucleoside phosphorylase deficiency: engrafted donor-derived white blood cells provide …
V Singh - JIMD Reports-Case and Research Reports, 2012/3, 2012 - Springer
Purine nucleoside phosphorylase (PNP) deficiency is an immunodeficiency disorder
characterized by recurrent infections, failure to thrive and neurologic symptomatology. While …
characterized by recurrent infections, failure to thrive and neurologic symptomatology. While …