You are using an outdated browser. Please upgrade your browser to improve your experience.
combined immunodeficiency due to LRBA deficiency
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease.
Mondo Term and Equivalent IDs
MONDO:0013863: combined immunodeficiency due to LRBA deficiency
Download Data for combined immunodeficiency due to LRBA deficiency
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614700
Orphanet:445018
UMLS:C3553512
MONDO:0013863
High level summary of knowledge for a disease, including descriptions and datasource references.