primary (genetic) immunodeficiencies • molecular genetics • translational research • immunity • infections
My research focuses on identifying how genetic defects of immunity predispose patients to infectious diseases. A fundamental enigma in the field of infectious diseases is the variability in clinical outcome between individuals exposed to the same microbial environment. For a given microbe, what distinguishes those who are “well” or “mildly symptomatic” from those who develop “life-threatening disease”? Accumulating evidence demonstrates that mutations in critical genes can cause a variety of immunodeficiencies, resulting in human susceptibility to specific infectious diseases. My research program is distinguished by the unique ability to bring patients (and relevant family members) with unusual, severe or recalcitrant infections into the laboratory and meticulously study them, through state-of-the-art genomic and functional immunologic studies and model systems, to delineate fundamental principles of human immunobiology. In so doing, we aim to translate our findings into innovative therapies directly relevant for patients, and to discover novel diseases of human immunity.
CARD9 deficiency and spontaneous central nervous system candidiasis: complete clinical remission with GM-CSF therapy. Gavino C, Cotter A, Lichtenstein D, Lejtenyi D, Fortin C, Legault C, Alirezaie N, Majewski J, Sheppard DC, Behr MA, Foulkes WD, Vinh DC. Clin Infect Dis. 2014 Jul 1;59(1):81-4. PMID: 24704721.
Insights into human antifungal immunity from primary immunodeficiencies. Vinh DC. Lancet Infect Dis. 2011 Oct;11(10):780-92 PMID: 21958581.
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Vinh DC, Patel SY, Uzel G, Anderson VL, Freeman AF, Olivier KN, Spalding C, Hughes S, Pittaluga S, Raffeld M, Sorbara LR, Elloumi HZ, Kuhns DB, Turner ML, Cowen EW, Fink D, Long-Priel D, Hsu AP, Ding L, Paulson ML, Whitney AR, Sampaio EP, Frucht DM, DeLeo FR, Holland SM. Blood. 2010 Feb 25;115(8):1519-29. PMID: 20040766.
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, Frucht DM, Vinh DC, Auth RD, Freeman AF, Olivier KN, Uzel G, Zerbe CS, Spalding C, Pittaluga S, Raffeld M, Kuhns DB, Ding L, Paulson ML, Marciano BE, Gea-Banacloche JC, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM. Blood. 2011 Sep 8;118(10):2653-5. PMID: 21670465.
Yeast infections--human genetics on the rise. Holland SM, Vinh DC. N Engl J Med. 2009 Oct 29;361(18):1798-801.