Abstract
Bloom's syndrome is an autosomal recessive disorder characterized by intrauterine growth retardation, typical physical signs, immunodeficiency and an increased risk of developing neoplasms at a young age, compared to the general population. Factors possibly involved in the pathogenesis of non-endemic Burkitt's lymphoma in a five year old girl with Bloom's syndrome are discussed. These include immunodeficiency, upregulated c-myc expression and an Epstein-Barr viral infection.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Bloom Syndrome / complications*
-
Bloom Syndrome / genetics
-
Bloom Syndrome / microbiology
-
Bloom Syndrome / pathology
-
Bloom Syndrome / therapy
-
Blotting, Southern
-
Burkitt Lymphoma / complications*
-
Burkitt Lymphoma / genetics
-
Burkitt Lymphoma / microbiology
-
Burkitt Lymphoma / pathology
-
Child, Preschool
-
Chromosomes, Human, Pair 14 / ultrastructure
-
Chromosomes, Human, Pair 8 / ultrastructure
-
DNA, Neoplasm / analysis
-
DNA, Viral / analysis
-
Fatal Outcome
-
Female
-
Genes, myc
-
Growth Hormone / adverse effects
-
Growth Hormone / therapeutic use
-
Herpesvirus 4, Human / isolation & purification
-
Humans
-
Immunophenotyping
-
In Situ Hybridization
-
Polymerase Chain Reaction
-
Recombinant Proteins / adverse effects
-
Recombinant Proteins / therapeutic use
-
Translocation, Genetic
-
Tumor Virus Infections / complications
-
Tumor Virus Infections / microbiology
Substances
-
DNA, Neoplasm
-
DNA, Viral
-
Recombinant Proteins
-
Growth Hormone