麻豆AV

• Myeloid defects
• Neutropenia, monocytopenia
• Mycoses/fungal infections
• Translational research
• Molecular genetics
• Primary (genetic) immunodeficiencies

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.

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.