A5015351805- Immunodeficiency and Autoimmune Disorders
- Transplantation: Methods and Outcomes
- CAR-T cell therapy research
- Blood disorders and treatments
- Organ Transplantation Techniques and Outcomes
- Renal Transplantation Outcomes and Treatments
- Respiratory viral infections research
- Cell Adhesion Molecules Research
- Immune Cell Function and Interaction
- interferon and immune responses
- Pneumocystis jirovecii pneumonia detection and treatment
- Lymphoma Diagnosis and Treatment
- Congenital Diaphragmatic Hernia Studies
- COVID-19 Clinical Research Studies
- Acute Myeloid Leukemia Research
- Inflammasome and immune disorders
- SARS-CoV-2 and COVID-19 Research
Karolinska University Hospital
2022-2024
Rockefeller University
2022
Swedish Orphan Biovitrum (United States)
2021
Karolinska Institutet
2014-2019
Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients' fibroblasts and plasmacytoid dendritic cells produced no detectable type I III IFNs, except IFN-β. Having discovered four new patients, we describe the genetic, immunological, clinical features of seven IRF7-deficient from six families five ancestries. Five were homozygous two compound heterozygous for variants. Patients typically had one...
Megakaryoblastic leukemia 1 (MKL1) is a coactivator of serum response factor and together they regulate transcription actin cytoskeleton genes. MKL1 associated with hematologic malignancies immunodeficiency, but its role in B cells unexplored. Here we examined from monozygotic triplets an intronic deletion MKL1, two whom had been previously treated for Hodgkin lymphoma (HL). To investigate B-cell responses the pathogenesis HL, generated Epstein-Barr virus-transformed lymphoblastoid cell...
X-linked neutropenia (XLN) is caused by gain-of-function mutations in the actin regulator Wiskott-Aldrich Syndrome protein (WASp). XLN patients have reduced numbers of cytotoxic cells peripheral blood; however, their capacity to kill tumor remains be determined. Here, we examined NK and T from 2 with harboring activating WASpL270P mutation. patient had increased granzyme B content elevated degranulation IFN-γ production when compared healthy control cells. Murine WASpL272P formed stable...
Abstract Several genetic and immunological risk factors for severe COVID-19 have been identified, with monogenic conditions relating to 13 genes of type I interferon (IFN) immunity proposed explain 4.8% critical cases. However, previous cohorts clinically heterogeneous were not subjected thorough analyses. We therefore aimed systematically investigate the prevalence rare variants causing inborn errors (IEI) functionally interrogate IFN pathway in young adults that suffered from yet lacked...
The aim of this study was to evaluate the analytical performance a novel NGS assay, intended for monitoring donor-derived cell-free DNA (dd-cfDNA), and describe its validity in clinical plasma samples from kidney transplanted patients. Artificial with increasing amounts patient were evaluated using analysis indel markers. Monitoring dd-cfDNA assay presented herein demonstrated sensitivity ≥0.1% excellent accuracy (R2 0.99) throughout an extensive range (0.1-30%). precision test determined...