Marr N

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]

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]

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]