Notarangelo LD

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.

Le Voyer T, Parent AV, Liu X, ..., Casanova JL, Puel A

Nature 623 (7988) 803-813 [2023-11-00; online 2023-11-08]

Autoimmunity and Serology Profiling [Service] Clinical Genomics Stockholm [Service]

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

Matuozzo D, Talouarn E, Marchal A, ..., Abel L, Cobat A

Genome Med 15 (1) - [2023-04-05; online 2023-04-05]

Clinical Genomics Stockholm [Service]

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

Matuozzo D, Talouarn E, Marchal A, ..., Abel L, Cobat A

Genome Med 15 (1) - [2023-04-05; online 2023-04-05]

Clinical Genomics Stockholm [Service]

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

Asano T, Boisson B, Onodi F, ..., Zhang Q, Casanova JL

Sci Immunol 6 (62) - [2021-08-19; online 2021-08-21]

Clinical Genomics Stockholm [Service]