familial Behcet-like autoinflammatory syndrome

Term ID

DOID:0080944

Synonyms

• A20 haploinsufficiency

Definition

A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23. https://pubmed.ncbi.nlm.nih.gov/26642243/

References

• OMIM:616744

Ontology

Human Disease   ( DOID:0080944 )