Fasth A

Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors.

Borgström EW, Edvinsson M, Pérez LP, ..., Brodin P, Bergman P

J Clin Immunol 43 (1) 136-150 [2023-01-00; online 2022-09-02]

Bioinformatics Support for Computational Resources [Service] Cellular Immunomonitoring [Collaborative] 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]

Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report

Lundin KE, Wang Q, Hamasy A, ..., Ekwall O, Smith CIE

BMC Pediatr 18 (1) 285 [2018-12-00; online 2018-08-29]

Clinical Genomics Stockholm [Collaborative]