Puel A

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.

Rosain J, Le Voyer T, Liu X, ..., Anderson MS, Casanova JL

J. Exp. Med. 221 (11) - [2024-11-04; online 2024-10-01]

Autoimmunity and Serology Profiling [Service]

Inherited human RelB deficiency impairs innate and adaptive immunity to infection.

Le Voyer T, Maglorius Renkilaraj MRL, Moriya K, ..., Tangye SG, Puel A

Proc. Natl. Acad. Sci. U.S.A. 121 (37) e2321794121 [2024-09-10; online 2024-09-04]

Autoimmunity and Serology Profiling [Service]

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.

Bastard P, Gervais A, Taniguchi M, ..., Cobat A, Casanova JL

J. Exp. Med. 221 (2) - [2024-02-05; online 2024-01-04]

Clinical Genomics Stockholm [Service]

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]

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]