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Bio
PERSONAL STATEMENT
Immunology and genetics have always fascinated me, specfically understanding how our immune system acts against microbial agents and its ability to adapt to the microbiota. One approach is to observe the clinical and immunological characteristics of patients with Inborn errors of immunity (IEI). As an immunologist and molecular biologist, I have made substantial contributions to the field of genetic predisposition to infectious diseases, including bacterial, viral and mycobacterial infectious diseases in humans.
In Colombia (South America) in the Group of Primary Immunodeficiency at the University of Antioquia, we explored the molecular basis of these defects in Colombian patients. This initiative has led to the identification of patients and the causing mutations, and studies are currently underway to identify the genetic basis of these diseases. From a basic biological standpoint, my interest and studies will provide considerable insight into the mechanisms of immunity against viruses, bacteria and fungus and will help to define the cellular basis of these infectious diseases in humans living in tropical areas. From a clinical standpoint, the dissection of the pathogenesis of these diseases in patients will help to provide molecular diagnosis and genetic counseling for families and will pave the way to study other infectious diseases as a result of inborn-errors of innate immunity in humans.
I have made significant contributions to the field of mycobacterial diseases and inborn errors of immunity affecting the NADPH oxidase complex (mutations in CYBB and NCF4) and substantial contributions in the molecular, cellular, and immunological basis of various infectious diseases and related conditions, including tuberculosis, invasive fungal infections and Epidermodisplasia verruciformis (mutations in IL12RB1, CYBB, NCF4, CARD9 and CIB1). These studies have fundamental implications for the clinic, as well as major biological consequences, and I am eager to shed light on this important vein of research into the genetics of infectious diseases as an independent investigator.
CONTRIBUTION TO SCIENCE
1. Chronic granulomatous disease (CGD) is a group of inborn error of immunity characterized by severe and recurrent bacterial (including mycobacterial) and fungal infections. CGD is caused by mutations in six genes encoding subunits of the nicotinamide adenine dinucleotide phosphatase (NADPH) oxidase complex, and leading to an impaired production of reactive oxygen species (ROS) in all phagocytic cells. We report the first case of autosomal recessive mutations in NCF4, the gene encoding p40(phox), in a boy who presented with granulomatous colitis. His neutrophils showed a substantial defect in intracellular superoxide production during phagocytosis, whereas extracellular release of superoxide elicited by phorbol ester or formyl-methionyl-leucyl-phenylalanine (fMLF) was unaffected. Thus, p40(phox) binding to PtdIns(3)P is essential for phagocytosis-induced oxidant production in human neutrophils and its absence can be associated with disease.
2. I contributed to the discovery of genetic etiologies responsible for Mendelian susceptibility to mycobacterial diseases (MSMD) and tuberculosis (TB). MSMD is characterized by a narrow susceptibility to weakly virulent mycobacteria. Allelic heterogeneity at 18 MSMD-causing loci defines 33 different disorders, all of which impair IFN-γ immunity. The phagocytic NADPH oxidase complex (PHOX) is controlled by IFN-γ, accounting for mycobacterial disease occurring in patients with MSMD or CGD. We identified hypomorphic mutations in CYBB that impair ROS production in monocytes-derived macrophages (MDMs) but do not impact neutrophils, monocytes or monocytes-derived dendritic cells (MDDCs). We connected MSMD and CGD, by showing that specific mutations of the PHOX complex can selectively disrupt the destruction of mycobacteria. In collaboration with other groups, we identified a cohort of patients with p40phox deficiency, who had noninvasive infections and hyperinflammation.
Published Work in My Bibliography:
https://www.ncbi.nlm.nih.gov/myncbi/1Ja68oAsc5j/bibliography/public/
Research Interests
Papers共 75 篇Author StatisticsCo-AuthorSimilar Experts
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Journal of Clinical Immunologyno. 7 (2024): 1-10
medRxiv : the preprint server for health sciencesno. 1 (2023): 22-22
JOURNAL OF EXPERIMENTAL MEDICINEno. 12 (2022)
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Author Statistics
#Papers: 73
#Citation: 4395
H-Index: 23
G-Index: 47
Sociability: 7
Diversity: 2
Activity: 110
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