Literature DB >> 8774508

Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling.

C B Broome1, M L Graham, F T Saulsbury, M S Hershfield, R H Buckley.   

Abstract

Deficiency of the purine salvage pathway enzyme purine nucleoside phosphorylase causes a combined immunodeficiency and neurologic abnormalities and is usually fatal in childhood. We report the first successful transplantation of bone marrow from a sibling with identical class II human leukocyte antigens in this condition, demonstrating correction of both lymphocyte metabolic and functional abnormalities.

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Year:  1996        PMID： 8774508     DOI： 10.1016/s0022-3476(96)70285-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  9 in total

1.  Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India.

Authors:  Manisha Rajan Madkaikar; Shilpa Kulkarni; Prashant Utage; Lynette Fairbanks; Kanjaksha Ghosh; Anthony Marinaki; Mukesh Desai
Journal:  BMJ Case Rep       Date:  2011-12-08

Review 2.  Transplantation immunology: solid organ and bone marrow.

Authors:  Javier Chinen; Rebecca H Buckley
Journal:  J Allergy Clin Immunol       Date:  2010-02       Impact factor: 10.793

Review 3.  Stem cell transplantation for immunodeficiency.

Authors:  A Fischer; E Haddad; N Jabado; J L Casanova; S Blanche; F Le Deist; M Cavazzana-Calvo
Journal:  Springer Semin Immunopathol       Date:  1998

4.  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

5.  Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency.

Authors:  Raz Somech; Atar Lev; Galia Grisaru-Soen; Shelly I Shiran; Amos J Simon; Eyal Grunebaum
Journal:  Immunol Res       Date:  2013-05       Impact factor: 2.829

6.  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

7.  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

8.  Infusion of Sibling Marrow in a Patient with Purine Nucleoside Phosphorylase Deficiency Leads to Split Mixed Donor Chimerism and Normal Immunity.

Authors:  Laura Yeates; Mary A Slatter; Andrew R Gennery
Journal:  Front Pediatr       Date:  2017-06-19       Impact factor: 3.418

9.  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
  9 in total

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