Biomaterial Database

Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions. 1998

S S Ting, and J Ziegler, and E Fischer

Department of Immunology/Allergy, Sydney Children's Hospital, Nepean Hospital, NSW, Australia.

Blau syndrome is a granulomatous disease of the skin, eyes, and joints, usually without visceral involvement. It is inherited in a autosomal dominant manner. The Blau susceptibility locus has been mapped to chromosome 16 p 12-q21. A recent report has added liver granulomata. We describe a family with Blau syndrome in whom 1 member had renal interstitial granulomata.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007674	Kidney Diseases	Pathological processes of the KIDNEY or its component tissues.	Disease, Kidney,Diseases, Kidney,Kidney Disease
D008107	Liver Diseases	Pathological processes of the LIVER.	Liver Dysfunction,Disease, Liver,Diseases, Liver,Dysfunction, Liver,Dysfunctions, Liver,Liver Disease,Liver Dysfunctions
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
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D002874	Chromosome Mapping	Any method used for determining the location of and relative distances between genes on a chromosome.	Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002885	Chromosomes, Human, Pair 16	A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.	Chromosome 16
D005128	Eye Diseases	Diseases affecting the eye.	Eye Disorders,Eye Disease,Eye Disorder
D005260	Female		Females