Bryceson YT

SHP-1 localization to the activating immune synapse promotes NK cell tolerance in MHC class I deficiency.

Schmied L, Luu TT, Søndergaard JN, ..., Saeed MB, Höglund P

Sci Signal 16 (780) eabq0752 [2023-04-11; online 2023-04-11]

Integrated Microscopy Technologies 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]

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]

Childhood Kaposi sarcoma related to hypomorphic severe combined immunodeficiency caused by a novel CORO1A mutation.

Muleviciene A, Sekine T, Zondag T, ..., Tesi B, Rascon J

Pediatr Blood Cancer - (-) e29487 [2021-12-16; online 2021-12-16]

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]

Severe COVID-19 in an APS1 patient with interferon autoantibodies treated with plasmapheresis

Lemarquis A, Campbell T, Aranda-Guillén M, ..., Berg S, Ekwall O

Journal of Allergy and Clinical Immunology 148 (1) 96-98 [2021-07-00; online 2021-07-00]

Autoimmunity and Serology Profiling [Service]

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency

Tesi B, Sieni E, Neves C, ..., Azzari C, Bryceson YT

Journal of Allergy and Clinical Immunology 135 (6) 1638-1641.e5 [2015-06-00; online 2015-06-00]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure