Genetic models of human and mouse dendritic cell development and function
Dendritic cells (DCs) develop in the bone marrow from haematopoietic progenitors that have
numerous shared characteristics between mice and humans. Human counterparts of mouse …
numerous shared characteristics between mice and humans. Human counterparts of mouse …
[HTML][HTML] Host genetics and infectious disease: new tools, insights and translational opportunities
Understanding how human genetics influence infectious disease susceptibility offers the
opportunity for new insights into pathogenesis, potential drug targets, risk stratification …
opportunity for new insights into pathogenesis, potential drug targets, risk stratification …
[HTML][HTML] Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee
We report the updated classification of Inborn Errors of Immunity/Primary
Immunodeficiencies, compiled by the International Union of Immunological Societies Expert …
Immunodeficiencies, compiled by the International Union of Immunological Societies Expert …
[HTML][HTML] IRF and STAT transcription factors-from basic biology to roles in infection, protective immunity, and primary immunodeficiencies
TH Mogensen - Frontiers in immunology, 2019 - frontiersin.org
The induction and action of type I interferon (IFN) is of fundamental importance in human
immune defenses toward microbial pathogens, particularly viruses. Basic discoveries within …
immune defenses toward microbial pathogens, particularly viruses. Basic discoveries within …
Mendelian susceptibility to mycobacterial disease: recent discoveries
J Bustamante - Human genetics, 2020 - Springer
Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN-
γ immunity. Affected patients are highly and selectively susceptible to weakly virulent …
γ immunity. Affected patients are highly and selectively susceptible to weakly virulent …
[HTML][HTML] Differential IRF8 transcription factor requirement defines two pathways of dendritic cell development in humans
The formation of mammalian dendritic cells (DCs) is controlled by multiple hematopoietic
transcription factors, including IRF8. Loss of IRF8 exerts a differential effect on DC subsets …
transcription factors, including IRF8. Loss of IRF8 exerts a differential effect on DC subsets …
[HTML][HTML] Human T-bet governs innate and innate-like adaptive IFN-γ immunity against mycobacteria
Inborn errors of human interferon gamma (IFN-γ) immunity underlie mycobacterial disease.
We report a patient with mycobacterial disease due to inherited deficiency of the …
We report a patient with mycobacterial disease due to inherited deficiency of the …
Mendelian susceptibility to mycobacterial disease: 2014–2018 update
J Rosain, XF Kong… - Immunology and cell …, 2019 - Wiley Online Library
Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN‐
γ immunity. Since 1996, disease‐causing mutations have been found in 11 genes, which …
γ immunity. Since 1996, disease‐causing mutations have been found in 11 genes, which …
Lysosomal storage disorders–challenges, concepts and avenues for therapy: beyond rare diseases
ARA Marques, P Saftig - Journal of cell science, 2019 - journals.biologists.com
The pivotal role of lysosomes in cellular processes is increasingly appreciated. An
understanding of the balanced interplay between the activity of acidic hydrolases, lysosomal …
understanding of the balanced interplay between the activity of acidic hydrolases, lysosomal …
Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant
Inherited IL-12Rβ1 and TYK2 deficiencies impair both IL-12–and IL-23–dependent IFN-γ
immunity and are rare monogenic causes of tuberculosis, each found in less than 1/600,000 …
immunity and are rare monogenic causes of tuberculosis, each found in less than 1/600,000 …