[HTML][HTML] From rare disorders of immunity to common determinants of infection: Following the mechanistic thread

JL Casanova, L Abel - Cell, 2022 - cell.com
The immense interindividual clinical variability during any infection is a long-standing
enigma. Inborn errors of IFN-γ and IFN-α/β immunity underlying rare infections with weakly …

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 …

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

P Bastard, LB Rosen, Q Zhang, E Michailidis… - Science, 2020 - science.org
INTRODUCTION Interindividual clinical variability is vast in humans infected with severe
acute respiratory syndrome coronavirus 2 (SARS-CoV-2), ranging from silent infection to …

[HTML][HTML] Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

D Matuozzo, E Talouarn, A Marchal, P Zhang, J Manry… - Genome medicine, 2023 - Springer
Background We previously reported that impaired type I IFN activity, due to inborn errors of
TLR3-and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type …

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 …

[HTML][HTML] Clinical and molecular findings in mendelian susceptibility to mycobacterial diseases: experience from India

PD Taur, V Gowri, AA Pandrowala, VV Iyengar… - Frontiers in …, 2021 - frontiersin.org
Mendelian Susceptibility to Mycobacterial diseases (MSMD) are a group of innate immune
defects with more than 17 genes and 32 clinical phenotypes identified. Defects in the IFN-γ …

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

J Bustamante, S Boisson-Dupuis, L Abel… - Seminars in …, 2014 - Elsevier
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized
by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG …

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

Q Zhang, D Matuozzo, J Le Pen, D Lee… - Journal of Experimental …, 2022 - rupress.org
Recessive or dominant inborn errors of type I interferon (IFN) immunity can underlie critical
COVID-19 pneumonia in unvaccinated adults. The risk of COVID-19 pneumonia in …

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez… - Science, 2020 - science.org
INTRODUCTION Clinical outcomes of human severe acute respiratory syndrome
coronavirus 2 (SARS-CoV-2) infection range from silent infection to lethal coronavirus …

The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases

S Al-Muhsen, JL Casanova - Journal of allergy and clinical immunology, 2008 - Elsevier
Primary immunodeficiencies (PIDs) were long thought to be exclusively recessive traits—
autosomal recessive (AR) in most cases, with a few X-linked recessive (XR) diseases. In …