Abstract
Some, but not all, TACI mutations found in CVID impair TACI function and may potentially contribute to B cell dysfunction in heterozygotes via haploinsufficiency.
MeSH terms
-
Amino Acid Sequence
-
Cell Separation
-
Common Variable Immunodeficiency / genetics*
-
Common Variable Immunodeficiency / metabolism
-
Flow Cytometry
-
Humans
-
Molecular Sequence Data
-
Mutation
-
Signal Transduction / genetics*
-
Transfection
-
Transmembrane Activator and CAML Interactor Protein / chemistry
-
Transmembrane Activator and CAML Interactor Protein / genetics*
-
Transmembrane Activator and CAML Interactor Protein / metabolism*
Substances
-
TNFRSF13B protein, human
-
Transmembrane Activator and CAML Interactor Protein