Human Genetic Susceptibility to Invasive Aspergillosis

Aspergillosis includes a wide spectrum of diseases caused by fungi of the genus Aspergillus with clinical manifestations that range from colonization (e.g., aspergilloma), to allergic bronchopulmonary aspergillosis, to disseminated forms of infection. Invasive aspergillosis (IA) has been estimated to occur in 10% of acute myeloid leukemia patients during post-induction aplasia or consolidation therapy and after 5–15% of allogeneic hematopoietic stem cell transplants (HSCT) [1], [2]. Additional persons at risk for IA include recipients of solid organ transplants and patients with chronic granulomatous disease (CGD). Despite the significant progress attained in the management of this severe infection, its prevention, diagnosis, and therapy remain extremely difficult, rendering it a leading cause of death among immunocompromised patients. Additionally, concerns over antimold prescription and the remarkably high healthcare costs owing to its chronic course and mortality rates have been diverting clinicians from universal prophylaxis to risk stratification and preemptive approaches. This has inspired the search for novel individual prognostic factors, particularly genetic, to apply in the categorization of those most vulnerable to infection.