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complement component 4b deficiency
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene.
Uniprot Description A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis.
Disease Ontology Description A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4B deficiency.