Literature DB >> 11902746

Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.

Christel Baguette1, Christiane Vermylen, Bénédicte Brichard, Jacques Louis, Karin Dahan, Marie Françoise Vincent, Guy Cornu.   

Abstract

A 10-month-old girl with a history of recurrent candidiasis, developmental delay, and a fulminant varicella infection is described. The diagnosis of purine nucleoside phosphorylase (PNP) deficiency was suggested by a reduced level of serum uric acid and confirmed by measurement of PNP activity. A human leukocyte antigen-matched bone marrow transplantation resulted in immune reconstitution, but poor neurodevelopmental progression.

Entities:  

Mesh：

Substances：

Year:  2002        PMID： 11902746     DOI： 10.1097/00043426-200201000-00018

Source DB:  PubMed          Journal:  J Pediatr Hematol Oncol        ISSN： 1077-4114            Impact factor:   1.289


  7 in total

1.  TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice.

Authors:  Ana Toro; Eyal Grunebaum
Journal:  J Clin Invest       Date:  2006-09-07       Impact factor: 14.808

2.  Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor.

Authors:  Nicholas Brodszki; Maria Svensson; André B P van Kuilenburg; Judith Meijer; Lida Zoetekouw; Lennart Truedsson; Jacek Toporski
Journal:  JIMD Rep       Date:  2015-05-13

3.  Inborn errors of purine metabolism: clinical update and therapies.

Authors:  Shanti Balasubramaniam; John A Duley; John Christodoulou
Journal:  J Inherit Metab Dis       Date:  2014-06-28       Impact factor: 4.982

Review 4.  Uric acid changes in urine and plasma: an effective tool in screening for purine inborn errors of metabolism and other pathological conditions.

Authors:  R E Simoni; L N L Ferreira Gomes; F B Scalco; C P H Oliveira; F R Aquino Neto; M L Costa de Oliveira
Journal:  J Inherit Metab Dis       Date:  2007-05-19       Impact factor: 4.982

Review 5.  Primary immunodeficiency diseases associated with neurologic manifestations.

Authors:  Soodabeh Fazeli Dehkordy; Asghar Aghamohammadi; Hans D Ochs; Nima Rezaei
Journal:  J Clin Immunol       Date:  2011-10-26       Impact factor: 8.542

6.  The Broad Clinical Spectrum and Transplant Results of PNP Deficiency.

Authors:  Polina Stepensky; Irina Zaidman; Yael Dinur Schejter; Ehud Even-Or; Bella Shadur; Adeeb NaserEddin
Journal:  J Clin Immunol       Date:  2019-11-09       Impact factor: 8.542

7.  Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development.

Authors:  Eyal Grunebaum; Nicholas Campbell; Matilde Leon-Ponte; Xiaobai Xu; Hugo Chapdelaine
Journal:  Front Immunol       Date:  2020-06-30       Impact factor: 7.561
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.