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