Severe combined immunodeficiency caused by Inositol-trisphosphate 3-Kinase B (ITPKB) deficiency
2020
: We identified a novel cause of T-B+NK+ severe combined immunodeficiency due to homozygous frameshift mutation in ITPKB, demonstrating the critical role of ITPKB in human T cell development.
Keywords:
- Pleckstrin homology domain
- Cell biology
- Store-operated calcium entry
- PI3K/AKT/mTOR pathway
- Immunology
- Phosphatidylinositol (3,4,5)-trisphosphate
- Phosphatidylinositol 4,5-bisphosphate
- Severe combined immunodeficiency
- Medicine
- Inositol-trisphosphate 3-kinase
- Frameshift mutation
- Molecular biology
- T cell
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