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Common Variable Immunodeficiency 2

Disease ID: disease_node_17327

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DbxrefMIM:240500
SubclassofDOID_0050736, DOID_12177
Data SourceDOID
Doid Labelcommon variable immunodeficiency 2
Doid DescriptionA common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2.
Has Material Basis InGENO_0000147, GENO_0000148
Disease Node Iddisease_node_17327
Doid IdDOID_0081145
LabelCommon Variable Immunodeficiency 2