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

Journal of Pediatric Hematology/Oncology

Volumn 24, Issue 1, 2002, Pages 69-71

  Baguette, Christel ^a   Vermylen, Christiane ^a   Brichard, Bénédicte ^a   Louis, Jacques ^a   Dahan, Karin ^a   Vincent, Marie Françoise ^a   Cornu, Guy ^a  

^a CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

Author keywords

Bone marrow transplantation; Neurodevelopmental delay; Purine nucleoside phosphorylase deficiency; Severe combined immune deficiency

Indexed keywords

LEUKOCYTE ANTIGEN; NUCLEOSIDE PHOSPHORYLASE; PURINE NUCLEOSIDE; URIC ACID;

ANAMNESIS; ARTICLE; BONE MARROW TRANSPLANTATION; CANDIDIASIS; CASE REPORT; CHICKENPOX; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; HUMAN; INFANT; PRIORITY JOURNAL; TREATMENT OUTCOME; URIC ACID BLOOD LEVEL;

ALTERNATIVE SPLICING; AMINO ACID SUBSTITUTION; BONE MARROW TRANSPLANTATION; CHROMOSOME ABERRATIONS; DEVELOPMENTAL DISABILITIES; DISEASE PROGRESSION; EXONS; FEMALE; HUMANS; INFANT; LYMPHOCYTE ACTIVATION; LYMPHOCYTE COUNT; MUTATION, MISSENSE; PURINE-NUCLEOSIDE PHOSPHORYLASE; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; SEQUENCE DELETION; TIME FACTORS; TREATMENT OUTCOME; URIC ACID;

EID: 0036156386     PISSN: 10774114     EISSN: None     Source Type: Journal    
DOI: 10.1097/00043426-200201000-00018     Document Type: Article

References (17)

1. Purine nucleoside phosphorylase deficiency
2. Purine nucleoside phosphorylase
3. Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity
4. Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling
5. Purine nucleoside phosphorylase deficiency: Altered kinetic properties of a mutant enzyme
6. Prenatal exclusion of purine nucleoside phosphorylase deficiency
7. Early prenatal diagnosis of inherited severe immunodeficiencies linked to enzyme deficiencies
8. Assignment of nucleoside phosphorylase to D-14 and localization of X-linked loci in man by somatic cell genetics
9. A human purine nucleoside phosphorylase deficiency caused by a single base change
10. Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency
11. Mutations in purine nucleoside phosphorylase deficiency
12. Direct evidence of autosomal recessive inheritance of Arg 24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient
13. Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient
14. Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency
15. Late diagnosis and correction of purine nucleoside phosphorylase deficiency with allogeneic bone marrow transplantation
16. The effect of deoxycytidine and tetrahydrouridine in purine nucleoside phosphorylase deficiency
17. Purine nucleoside phosphorylase (PNP) deficiency: A therapeutic challenge