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[HTML][HTML] Human genetic and immunological determinants of critical COVID-19 pneumonia

Q Zhang, P Bastard, A Cobat, JL Casanova - Nature, 2022 - nature.com
SARS-CoV-2 infection is benign in most individuals but, in around 10% of cases, it triggers
hypoxaemic COVID-19 pneumonia, which leads to critical illness in around 3% of cases. The …

Exome and genome sequencing for inborn errors of immunity

…, V Pedergnana, L Moens, C Picard, A Cobat… - Journal of Allergy and …, 2016 - Elsevier
The advent of next-generation sequencing (NGS) in 2010 has transformed medicine, particularly
the growing field of inborn errors of immunity. NGS has facilitated the discovery of novel …

[HTML][HTML] SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

V Sancho-Shimizu, P Brodin, A Cobat… - Journal of Experimental …, 2021 - rupress.org
Multisystem inflammatory syndrome in children (MIS-C) emerged in April 2020 in communities
with high COVID-19 rates. This new condition is heterogenous but resembles Kawasaki …

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

…, CM Rice, L Abel, LD Notarangelo, A Cobat… - 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 disease 2019 (…

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

…, G Gorochov, E Jouanguy, CM Rice, A Cobat… - 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 rapid …

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

A Belkadi, A Bolze, Y Itan, A Cobat… - Proceedings of the …, 2015 - National Acad Sciences
We compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in
six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus …

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

…, G Barcenas-Morales, C Picard, A Cobat… - Journal of Experimental …, 2010 - rupress.org
Most patients with autoimmune polyendocrine syndrome type I (APS-I) display chronic
mucocutaneous candidiasis (CMC). We hypothesized that this CMC might result from …

Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

…, A Puel, O Filipe-Santos, A Cobat… - The Journal of …, 2008 - rupress.org
The cytokines controlling the development of human interleukin (IL) 17–producing T helper
cells in vitro have been difficult to identify. We addressed the question of the development of …

Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

…, HC Su, RP Lifton, E Jouanguy, A Cobat… - Science, 2022 - science.org
Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that
follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or …

X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19

…, E Jouanguy, A Amara, V Soumelis, A Cobat… - 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, …
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