primary (genetic) immunodeficiencies • molecular genetics • translational research • immunity • infections
My research focuses on identifying genetic defects of the immune system that explain why certain individuals are prone to infections. From patients with inexplicable or mysterious conditions referred to my clinic, my program performs comprehensive immunological and genetic investigations to identify the reason for their susceptibility, with the goal of identifying novel approaches to treating their conditions and restoring them back to health. The study of these rare genetic diseases of the immune system uniquely addresses both an unmet clinical need, while advancing our understanding of how the human body combats infections. 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 with asymptomatic colonization from those who develop a life-threatening disease? Accumulating evidence demonstrates that human genetic variations are critical determinants of immunodeficiency and susceptibility to infectious diseases.
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.