Matthew Lynberg
A5022393362- Sphingolipid Metabolism and Signaling
- Immunodeficiency and Autoimmune Disorders
- Neuroinflammation and Neurodegeneration Mechanisms
- T-cell and B-cell Immunology
- Diabetes and associated disorders
- Autophagy in Disease and Therapy
- Inflammasome and immune disorders
- Immune Cell Function and Interaction
National Institute of Allergy and Infectious Diseases
2021-2024
National Institutes of Health
2021-2024
Inborn errors of immunity (IEIs) unveil regulatory pathways human immunity. We describe a new IEI caused by mutations in the GTPase immune-associated protein 6 (GIMAP6) gene patients with infections, lymphoproliferation, autoimmunity, and multiorgan vasculitis. Patients Gimap6-/- mice show defects autophagy, redox regulation, polyunsaturated fatty acid (PUFA)-containing lipids. find that GIMAP6 complexes GABARAPL2 GIMAP7 to regulate activity. Also, is induced IFN-γ plays critical role...
Abstract Elucidating the molecular basis of immunodeficiency diseases is a powerful approach to discovering new immunoregulatory pathways in humans. Here we report 10 affected individuals from 4 families with disease comprising severe progressive lymphopenia, autoimmunity, immunodeficiency, and liver due recessive loss function variants “GTPase immunity-associated proteins” protein 5 (GIMAP5) . We show that involves naïve T lymphocytes corresponding increase antigen-experienced, but poorly...