The Broad Clinical Spectrum and Transplant Results of PNP Deficiency.
Bone Marrow Transplantation
/ methods
Child, Preschool
Female
Hematopoietic Stem Cell Transplantation
/ methods
Humans
Infant
Israel
Male
Primary Immunodeficiency Diseases
/ genetics
Purine-Nucleoside Phosphorylase
/ deficiency
Purine-Pyrimidine Metabolism, Inborn Errors
/ genetics
Retrospective Studies
Severe Combined Immunodeficiency
/ genetics
Transplantation Conditioning
/ methods
EBV-associated primary immune deficiency
PNP
combined immune deficiency
hematopoietic stem cell transplantation
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
01 2020
01 2020
Historique:
received:
10
07
2019
accepted:
25
09
2019
pubmed:
11
11
2019
medline:
12
2
2021
entrez:
11
11
2019
Statut:
ppublish
Résumé
Purine nucleoside phosphorylase (PNP) is a known yet rare cause of combined immunodeficiency with a heterogeneous clinical presentation. We aim to add to the expanding clinical spectrum of disease, and to summarize the available data on bone marrow transplant for this condition. Data was collected from patient files retrospectively. A review of the literature of hematopoietic stem cell transplantation (HSCT) for PNP deficiency was conducted. Four patients were treated in two centers in Israel. One patient died of EBV-related lymphoma with CNS involvement prior to transplant. The other three patients underwent successful HSCT with good immune reconstitution post-transplant (follow-up 8-108 months) and excellent neurological outcomes. PNP is a variable immunodeficiency and should be considered in various clinical contexts, with or without neurological manifestations. HSCT offers a good treatment option, with excellent clinical outcomes, when preformed in a timely manner.
Identifiants
pubmed: 31707514
doi: 10.1007/s10875-019-00698-1
pii: 10.1007/s10875-019-00698-1
doi:
Substances chimiques
Purine-Nucleoside Phosphorylase
EC 2.4.2.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
123-130Références
J Clin Invest. 1978 Apr;61(4):1071-80
pubmed: 96131
Br J Haematol. 2016 Nov;175(4):559-576
pubmed: 27748521
Immunol Today. 1981 Dec;2(12):234-8
pubmed: 25290650
J Pediatr. 2004 Nov;145(5):710-2
pubmed: 15520787
J Pediatr Hematol Oncol. 2002 Jan;24(1):69-71
pubmed: 11902746
Clin Genet. 2001 Jun;59(6):430-7
pubmed: 11453975
J Allergy Clin Immunol. 2012 Aug;130(2):539-42
pubmed: 22578971
N Engl J Med. 2014 Jul 31;371(5):434-46
pubmed: 25075835
Proc Natl Acad Sci U S A. 1979 Mar;76(3):1074-8
pubmed: 108675
J Pediatr. 1996 Mar;128(3):373-6
pubmed: 8774508
JIMD Rep. 2015;24:83-9
pubmed: 25967230
Ann Saudi Med. 2009 Jul-Aug;29(4):309-12
pubmed: 19584574
Clin Biochem. 2009 Nov;42(16-17):1725-7
pubmed: 19733163
Eur J Pediatr. 2010 Mar;169(3):311-4
pubmed: 19657670
BMJ Case Rep. 2011 Dec 08;2011:
pubmed: 22669887
Immunol Res. 2013 May;56(1):150-4
pubmed: 23371835
Pediatr Transplant. 2007 Nov;11(7):799-803
pubmed: 17910661
Bone Marrow Transplant. 2001 Jul;28(1):93-6
pubmed: 11498751
Pediatr Transplant. 2008 Jun;12(4):479-82
pubmed: 18208442
Pediatr Int. 2003 Jun;45(3):268-74
pubmed: 12828579
Hum Genet. 1996 Dec;98(6):706-9
pubmed: 8931706
JIMD Rep. 2012;6:39-42
pubmed: 23430937
Arch Dis Child. 1987 Apr;62(4):385-91
pubmed: 2439024
Pediatr Transplant. 2015 Mar;19(2):E47-50
pubmed: 25514831
J Allergy Clin Immunol. 2014 Jul;134(1):155-9
pubmed: 24767876
Clin Immunol. 2002 Oct;105(1):75-80
pubmed: 12483996
J Allergy Clin Immunol. 2011 Oct;128(4):854-863.e1
pubmed: 21868080
Pediatr Res. 2004 Mar;55(3):472-7
pubmed: 14711904
J Exp Med. 2000 Jun 19;191(12):2197-208
pubmed: 10859343
J Clin Immunol. 2012 Feb;32(1):1-24
pubmed: 22038677
Front Pediatr. 2017 Jun 19;5:143
pubmed: 28674683