A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency. [electronic resource]
Producer: 20151125Description: 816-819.e4 p. digitalISSN:- 1097-6825
- 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
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Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
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