Smith CIE

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]

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]

Covid-19 in patients with chronic lymphocytic leukemia: clinical outcome and B- and T-cell immunity during 13 months in consecutive patients.

Blixt L, Bogdanovic G, Buggert M, ..., Hansson L, Österborg A

Leukemia - (-) - [2021-09-25; online 2021-09-25]

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]

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]