Biomaterial Database

Viral infections and phenotypic heterogeneity in Gaucher disease. 2001

G Pines, and A Morag, and D Elstein, and A Abrahamov, and A Zimran

Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel.

Gaucher disease, the most common lysosomal storage disorder, is remarkable for its tremendous phenotypic heterogeneity even among patients with the same genotype. Beyond mutations at the 1q21 locus, there may be other genetic and environmental factors that impact on the natural course of Gaucher disease and indeed may trigger symptoms and signs. Among candidate events are viral infections such as the Epstein-Barr virus (EBV) or cytomegalovirus (CMV). The purpose of this study was to ascertain if indeed prior infection with EBV or CMV in patients homozygous for the most common mutation, N370S (1226G), is predictive of a more severe phenotype. Evidence for an EBV virus was IgG and IgM antibodies to early antigen and IgG anti-EBNA. For CMV infection, IgG and IgM antibodies were sought. This study failed to demonstrate any correlation between prior EBV or CMV infection and clinical course of Gaucher disease in patients homozygous for the N370S (1226G) mutation. The only positive finding was a higher level of anti-EBNA antibodies among patients with moderate/severe disease. In conclusion, other than a small subset of patients who showed a pattern comparable to immunosuppression, there was no association between severity of Gaucher disease and prior EBV or CMV infection.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D003586	Cytomegalovirus Infections	Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults.	CMV Inclusion,CMV Inclusions,Congenital CMV Infection,Congenital Cytomegalovirus Infection,Cytomegalic Inclusion Disease,Cytomegalovirus Colitis,Cytomegalovirus Inclusion,Cytomegalovirus Inclusion Disease,Cytomegalovirus Inclusions,Inclusion Disease,Perinatal CMV Infection,Perinatal Cytomegalovirus Infection,Renal Tubular Cytomegalovirus Inclusion,Renal Tubular Cytomegalovirus Inclusions,Salivary Gland Virus Disease,Severe Cytomegalovirus Infection,Severe Cytomegalovirus Infections,Infections, Cytomegalovirus,CMV Infection, Congenital,CMV Infection, Perinatal,Colitis, Cytomegalovirus,Congenital CMV Infections,Congenital Cytomegalovirus Infections,Cytomegalic Inclusion Diseases,Cytomegalovirus Colitides,Cytomegalovirus Inclusion Diseases,Cytomegalovirus Infection,Cytomegalovirus Infection, Congenital,Cytomegalovirus Infection, Perinatal,Cytomegalovirus Infection, Severe,Cytomegalovirus Infections, Severe,Disease, Cytomegalic Inclusion,Disease, Cytomegalovirus Inclusion,Diseases, Cytomegalovirus Inclusion,Inclusion Disease, Cytomegalic,Inclusion Disease, Cytomegalovirus,Inclusion Diseases,Inclusion Diseases, Cytomegalovirus,Inclusion, CMV,Inclusion, Cytomegalovirus,Infection, Congenital CMV,Infection, Congenital Cytomegalovirus,Infection, Cytomegalovirus,Infection, Perinatal CMV,Infection, Perinatal Cytomegalovirus,Infection, Severe Cytomegalovirus,Perinatal CMV Infections,Perinatal Cytomegalovirus Infections
D005260	Female		Females
D005776	Gaucher Disease	An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.	Cerebroside Lipidosis Syndrome,Gaucher Disease Type 1,Gaucher Disease Type 2,Glucocerebrosidase Deficiency Disease,Glucosylceramide Beta-Glucosidase Deficiency Disease,Neuronopathic Gaucher Disease,Acid beta-Glucosidase Deficiency,Acid beta-Glucosidase Deficiency Disease,Acute Neuronopathic Gaucher Disease,Chronic Gaucher Disease,GBA Deficiency,Gaucher Disease Type 3,Gaucher Disease, Acute Neuronopathic,Gaucher Disease, Acute Neuronopathic Type,Gaucher Disease, Chronic,Gaucher Disease, Chronic Neuronopathic Type,Gaucher Disease, Infantile,Gaucher Disease, Infantile Cerebral,Gaucher Disease, Juvenile,Gaucher Disease, Juvenile and Adult, Cerebral,Gaucher Disease, Neuronopathic,Gaucher Disease, Non-Neuronopathic Form,Gaucher Disease, Noncerebral Juvenile,Gaucher Disease, Subacute Neuronopathic Form,Gaucher Disease, Subacute Neuronopathic Type,Gaucher Disease, Type 1,Gaucher Disease, Type 2,Gaucher Disease, Type 3,Gaucher Disease, Type I,Gaucher Disease, Type II,Gaucher Disease, Type III,Gaucher Splenomegaly,Gaucher Syndrome,Gaucher's Disease,Gauchers Disease,Glucocerebrosidase Deficiency,Glucocerebrosidosis,Glucosyl Cerebroside Lipidosis,Glucosylceramidase Deficiency,Glucosylceramide Beta-Glucosidase Deficiency,Glucosylceramide Lipidosis,Infantile Gaucher Disease,Kerasin Histiocytosis,Kerasin Lipoidosis,Kerasin thesaurismosis,Lipoid Histiocytosis (Kerasin Type),Non-Neuronopathic Gaucher Disease,Subacute Neuronopathic Gaucher Disease,Type 1 Gaucher Disease,Type 2 Gaucher Disease,Type 3 Gaucher Disease,Cerebroside Lipidoses, Glucosyl,Cerebroside Lipidosis Syndromes,Cerebroside Lipidosis, Glucosyl,Deficiencies, GBA,Deficiencies, Glucocerebrosidase,Deficiency Disease, Glucocerebrosidase,Deficiency Diseases, Glucocerebrosidase,Deficiency, GBA,Deficiency, Glucocerebrosidase,Disease, Chronic Gaucher,Disease, Gaucher,Disease, Gaucher's,Disease, Gauchers,Disease, Glucocerebrosidase Deficiency,Disease, Infantile Gaucher,Disease, Juvenile Gaucher,Disease, Neuronopathic Gaucher,Disease, Non-Neuronopathic Gaucher,Diseases, Gauchers,Diseases, Glucocerebrosidase Deficiency,GBA Deficiencies,Gaucher Disease, Non Neuronopathic Form,Gaucher Disease, Non-Neuronopathic,Gauchers Diseases,Glucocerebrosidase Deficiencies,Glucocerebrosidase Deficiency Diseases,Glucocerebrosidoses,Glucosyl Cerebroside Lipidoses,Glucosylceramide Lipidoses,Histiocytoses, Kerasin,Histiocytoses, Lipoid (Kerasin Type),Histiocytosis, Kerasin,Histiocytosis, Lipoid (Kerasin Type),Juvenile Gaucher Disease,Kerasin Histiocytoses,Kerasin Lipoidoses,Kerasin thesaurismoses,Lipidoses, Glucosyl Cerebroside,Lipidoses, Glucosylceramide,Lipidosis Syndrome, Cerebroside,Lipidosis Syndromes, Cerebroside,Lipidosis, Glucosyl Cerebroside,Lipidosis, Glucosylceramide,Lipoid Histiocytoses (Kerasin Type),Lipoidoses, Kerasin,Lipoidosis, Kerasin,Non Neuronopathic Gaucher Disease,Splenomegaly, Gaucher,Syndrome, Cerebroside Lipidosis,Syndrome, Gaucher,Syndromes, Cerebroside Lipidosis,thesaurismoses, Kerasin,thesaurismosis, Kerasin
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D020031	Epstein-Barr Virus Infections	Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY).	EBV Infections,Epstein-Barr Virus Infection,Herpesvirus 4 Infections, Human,Human Herpes Virus 4 Infections,Human Herpesvirus 4 Infections,Infections, EBV,Infections, Epstein-Barr Virus,EBV Infection,Epstein Barr Virus Infection,Epstein Barr Virus Infections,Infection, EBV,Infection, Epstein-Barr Virus,Virus Infection, Epstein-Barr,Virus Infections, Epstein-Barr