Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
INTRODUCTION Clinical outcomes of human severe acute respiratory syndrome coronavirus
2 (SARS-CoV-2) infection range from silent infection to lethal coronavirus disease 2019 (…
2 (SARS-CoV-2) infection range from silent infection to lethal coronavirus disease 2019 (…
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19
…, H Abolhassani, S Mane, N Marr… - Science …, 2021 - science.org
Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines
underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare, …
underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare, …
Human IL-23 is essential for IFN-γ–dependent immunity to mycobacteria
…, B Boisson, C Fieschi, D Mansouri, N Marr… - Science …, 2023 - science.org
Patients with autosomal recessive (AR) IL-12p40 or IL-12Rβ1 deficiency display Mendelian
susceptibility to mycobacterial disease (MSMD) due to impaired IFN-γ production and, less …
susceptibility to mycobacterial disease (MSMD) due to impaired IFN-γ production and, less …
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child
The pathophysiology of adverse events following programmed cell death protein 1 (PD-1)
blockade, including tuberculosis (TB) and autoimmunity, remains poorly characterized. We …
blockade, including tuberculosis (TB) and autoimmunity, remains poorly characterized. We …
[HTML][HTML] Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency
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 …
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
…, M Bouaziz, T Habib, D Chaussabel, N Marr… - Science …, 2018 - science.org
Heterozygosity for human signal transducer and activator of transcription 3 (STAT3)
dominant-negative (DN) mutations underlies an autosomal dominant form of hyper–immunoglobulin …
dominant-negative (DN) mutations underlies an autosomal dominant form of hyper–immunoglobulin …
Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant
…, B Fleckenstein, A Puel, MJ Ciancanelli, N Marr… - Science …, 2018 - science.org
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 …
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 vaccines …
attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR vaccines …
Encephalitis and poor neuronal death–mediated control of herpes simplex virus in human inherited RIPK3 deficiency
…, F Rozenberg, R Perez de Diego, RD Dix, N Marr… - Science …, 2023 - science.org
Inborn errors of TLR3-dependent type I IFN immunity in cortical neurons underlie forebrain
herpes simplex virus-1 (HSV-1) encephalitis (HSE) due to uncontrolled viral growth and …
herpes simplex virus-1 (HSV-1) encephalitis (HSE) due to uncontrolled viral growth and …
[HTML][HTML] 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 …