Abstract
This study identifies a novel ORAI1 mutation that abolishes protein expression, but permits robust lymphocyte proliferation to mitogens. It is important to consider ORAI1 deficiency in the setting of a combined immunodeficiency with normal T cell numbers and residual T cell function.
Publication types
-
Case Reports
-
Letter
-
Research Support, N.I.H., Extramural
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adult
-
Calcium Channels / genetics
-
Calcium Channels / immunology*
-
Cell Proliferation / drug effects
-
Child
-
Consanguinity
-
Female
-
Fibroblasts / immunology*
-
Fibroblasts / pathology
-
Gene Expression
-
HEK293 Cells
-
Humans
-
Immunologic Deficiency Syndromes / diagnosis
-
Immunologic Deficiency Syndromes / genetics*
-
Immunologic Deficiency Syndromes / immunology
-
Immunologic Deficiency Syndromes / pathology
-
Ion Transport
-
Male
-
Mutation*
-
ORAI1 Protein
-
Pedigree
-
Primary Cell Culture
-
T-Lymphocytes / drug effects
-
T-Lymphocytes / immunology*
-
T-Lymphocytes / pathology
-
Tetradecanoylphorbol Acetate / pharmacology
-
Transfection
Substances
-
Calcium Channels
-
ORAI1 Protein
-
ORAI1 protein, human
-
Tetradecanoylphorbol Acetate