Monika Bambouskova
Washington University in St Louis, MO·Microbiology & Immunology
Mevalonate kinase deficiency (MKD) is a rare inherited disorder that is both a metabolic disease and an immune disease. Severe forms affect many organs.
- Fields
Microbiology & Immunology
Medicine & Clinical Research
Biochemistry
- Topics
mevalonate kinase deficiency
hyper-IgD syndrome
autoinflammatory disease
- Grants
- 1 known grant, through Jul 2028
What they work on
- Define the identity, gene activity programs and developmental path of an unusual IgD-producing B cell group (PRDM1⁺IGHD⁺) in MKD patients, using CITE-seq, B cell receptor sequencing and high-dimensional flow cytometry.
- Test whether isoprenoid shortage and impaired protein prenylation weaken induction of IRF4, a B cell maturation protein, and boost IgD production, using drug treatments of naïve human B cells and in vitro prenylation assays.
- Measure plasma metabolites and use mass spectrometry to link isoprenoid deficiency in mevalonate kinase deficiency to altered B cell activation and IgD output.
More about the research
Milder forms, including hyper-IgD syndrome (HIDS), cause repeated fevers and high blood levels of IgD, a type of antibody. Current treatments only ease symptoms and do not fix the underlying metabolic defect. It is also unclear why patients make so much IgD or how it contributes to disease.
Why it matters
People with mevalonate kinase deficiency currently have only symptom-based treatments. By explaining how the missing metabolites disrupt B cells, this work could provide a basis for metabolic therapies such as geranylgeraniol supplementation that target the underlying defect. It may also suggest ways to adjust B cell function through isoprenoid metabolism in autoimmune and inflammatory diseases.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Cristiana Cairo
University of Maryland, Baltimore, MD·Microbiology & Immunology
Evaluate the phenotypic and functional heterogeneity of Vδ2 T cells at birth and in early life in relation to age, focusing on a PD1-high subset found in cord blood but absent in adults, using CITE-seq and spectral flow cytometry.
Karin Bornfeldt
University of Washington, WA·Medicine & Clinical Research
Test whether higher plasma APOC3, a protein that controls triglyceride-rich particles, tracks with build-up of a mid-sized lipoprotein particle and worsening insulin resistance and arterial stiffness in youth with type 1 or type 2 diabetes followed over time.
Sara Suliman
University of California-San Francisco, CA·Microbiology & Immunology
Determine how pre-infection with mouse cytomegalovirus one month before Mycobacterium tuberculosis affects survival, lung pathology and immune cell composition in C57BL/6 mice, using fluorescent reporter strains of both pathogens.
The school
Washington University in St Louis: 97 labs on PI Pages, $1.2B a year on research, 365 research doctorates a year.
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