A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency.
Schaballie, Heidi
A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency. [electronic resource] - The Journal of allergy and clinical immunology Sep 2015 - 816-819.e4 p. digital
Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
1097-6825
10.1016/j.jaci.2015.03.009 doi
Age of Onset
Bacterial Infections--complications
Cell Proliferation
Child
Consanguinity
Female
Humans
Immunologic Deficiency Syndromes--complications
Immunophenotyping
Male
Membrane Proteins--genetics
Mutation
Neoplasm Proteins--genetics
Opportunistic Infections--complications
Siblings
Stromal Interaction Molecule 1
T-Lymphocytes--immunology
Young Adult
A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency. [electronic resource] - The Journal of allergy and clinical immunology Sep 2015 - 816-819.e4 p. digital
Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
1097-6825
10.1016/j.jaci.2015.03.009 doi
Age of Onset
Bacterial Infections--complications
Cell Proliferation
Child
Consanguinity
Female
Humans
Immunologic Deficiency Syndromes--complications
Immunophenotyping
Male
Membrane Proteins--genetics
Mutation
Neoplasm Proteins--genetics
Opportunistic Infections--complications
Siblings
Stromal Interaction Molecule 1
T-Lymphocytes--immunology
Young Adult