Bastard P

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]

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]

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.

Zhang Q, Matuozzo D, Le Pen J, ..., Cobat A, Casanova JL

J. Exp. Med. 219 (8) - [2022-08-01; online 2022-06-16]

Clinical Genomics Stockholm [Service]

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency.

Campbell TM, Liu Z, Zhang Q, ..., Meyts I, Bryceson YT

J. Exp. Med. 219 (7) - [2022-07-04; online 2022-06-07]

Clinical Genomics Stockholm [Service]

Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort

Carapito R, Li R, Helms J, ..., Chittenden TW, Bahram S

Sci. Transl. Med. 14 (628) eabj7521 [2022-01-19; online 2022-01-19]

Autoimmunity and Serology Profiling [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]