Hammarström L

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]

Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs

Framme JL, Lundqvist C, Lundell AC, ..., Oskarsdóttir S, Ekwall O

J Clin Immunol 42 (3) 618-633 [2022-04-00; online 2022-01-26]

Clinical Genomics Umeå [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]