Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency
K Felgentreff, R Perez-Becker, C Speckmann… - Clinical …, 2011 - Elsevier
Hypomorphic mutations in genes associated with severe combined immunodeficiency
(SCID) or Omenn syndrome can also cause milder immunodeficiencies. We report 10 new …
(SCID) or Omenn syndrome can also cause milder immunodeficiencies. We report 10 new …
The first purine nucleoside phosphorylase deficiency patient resembling IgA deficiency and a review of the literature
Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive primary
immunodeficiency disorder characterized by decreased numbers of T-cells, variable B-cell …
immunodeficiency disorder characterized by decreased numbers of T-cells, variable B-cell …
Purine nucleoside phosphorylase deficiency induces p53-mediated intrinsic apoptosis in human induced pluripotent stem cell-derived neurons
Purine nucleoside phosphorylase (PNP) is an important enzyme in the purine degradation
and salvage pathway. PNP deficiency results in marked T lineage lymphopenia and severe …
and salvage pathway. PNP deficiency results in marked T lineage lymphopenia and severe …
Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood …
LA Myers, MS Hershfield, WT Neale, M Escolar… - The Journal of …, 2004 - Elsevier
Purine nucleoside phosphorylase deficiency is a primary immunodeficiency syndrome
characterized by the triad of recurrent infection, neurologic dysfunction, and autoimmunity …
characterized by the triad of recurrent infection, neurologic dysfunction, and autoimmunity …
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 …
Purine and pyrimidine disorders
HA Simmonds, AH Van Gennip - … guide to the laboratory diagnosis of …, 2003 - Springer
Genetic metabolic purine and pyrimidine disorders were first reported in children as the
cause of kidney stones and intractable anaemia in 1954 and 1959 respectively [1]. A genetic …
cause of kidney stones and intractable anaemia in 1954 and 1959 respectively [1]. A genetic …
Purine and pyrimidine metabolism
N Kamatani, HA Jinnah, RCM Hennekam… - Emery and Rimoin's …, 2021 - Elsevier
Purine and pyrimidine nucleotides are essential for a vast number of biological processes
such as RNA and DNA synthesis and as a component of high-energy nucleotides, eg …
such as RNA and DNA synthesis and as a component of high-energy nucleotides, eg …
Cerebellar abnormalities in purine nucleoside phosphorylase deficient mice
A Mansouri, W Min, CJ Cole, SA Josselyn… - Neurobiology of …, 2012 - Elsevier
Inherited defects in purine nucleoside phosphorylase (PNP) cause severe T cell
immunodeficiency and progressive neurological dysfunction, yet little is known about the …
immunodeficiency and progressive neurological dysfunction, yet little is known about the …
[PDF][PDF] Bone marrow transplantation for primary immunodeficiency diseases
RH Buckley, A Fischer - Primary immunodeficiency diseases: a …, 2007 - ndl.ethernet.edu.et
In further contrast to the situation in solid organ transplantation, successful marrow
engraftment until recently required HLA identity (at least for HLA class II determinants) …
engraftment until recently required HLA identity (at least for HLA class II determinants) …
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 …