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 …
Mendelian susceptibility to mycobacterial disease: 2014–2018 update
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 …
Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines
Vaccination against measles, mumps, and rubella (MMR) and yellow fever (YF) with live
attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR …
attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR …
Severe influenza pneumonitis in children with inherited TLR3 deficiency
HK Lim, SXL Huang, J Chen, G Kerner… - Journal of Experimental …, 2019 - rupress.org
Autosomal recessive IRF7 and IRF9 deficiencies impair type I and III IFN immunity and
underlie severe influenza pneumonitis. We report three unrelated children with influenza A …
underlie severe influenza pneumonitis. We report three unrelated children with influenza A …
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency
N Hernandez, I Melki, H Jing, T Habib… - Journal of Experimental …, 2018 - rupress.org
Life-threatening pulmonary influenza can be caused by inborn errors of type I and III IFN
immunity. We report a 5-yr-old child with severe pulmonary influenza at 2 yr. She is …
immunity. We report a 5-yr-old child with severe pulmonary influenza at 2 yr. She is …
Differential roles of interferons in innate responses to mucosal viral infections
FC Walker, PR Sridhar, MT Baldridge - Trends in Immunology, 2021 - cell.com
Interferons (IFNs) are among the first vertebrate immune pathways activated upon viral
infection and are crucial for control of viral replication and dissemination, especially at …
infection and are crucial for control of viral replication and dissemination, especially at …
Inherited IFNAR1 deficiency in a child with both critical COVID-19 pneumonia and multisystem inflammatory syndrome
H Abolhassani, N Landegren, P Bastard… - Journal of clinical …, 2022 - Springer
Background Inborn errors of immunity (IEI) and autoantibodies to type I interferons (IFNs)
underlie critical COVID-19 pneumonia in at least 15% of the patients, while the causes of …
underlie critical COVID-19 pneumonia in at least 15% of the patients, while the causes of …
Inherited human IFN-γ deficiency underlies mycobacterial disease
Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by a selective
predisposition to clinical disease caused by the Bacille Calmette-Guérin (BCG) vaccine and …
predisposition to clinical disease caused by the Bacille Calmette-Guérin (BCG) vaccine and …
Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency
P Bastard, J Manry, J Chen, J Rosain… - The Journal of …, 2021 - Am Soc Clin Investig
Inborn errors of TLR3-dependent IFN-α/β–and IFN-λ–mediated immunity in the CNS can
underlie herpes simplex virus 1 (HSV-1) encephalitis (HSE). The respective contributions of …
underlie herpes simplex virus 1 (HSV-1) encephalitis (HSE). The respective contributions of …
Genetic lesions of type I interferon signalling in human antiviral immunity
The concept that type I interferons (IFN-I) are essential to antiviral immunity derives from
studies on animal models and cell lines. Virtually all pathogenic viruses have evolved …
studies on animal models and cell lines. Virtually all pathogenic viruses have evolved …