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View article: The Genomic Medicine Center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation
The Genomic Medicine Center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation Open
Background As clinical genetics evolves towards the broader field of clinical genomics, the diagnostic approach to rare diseases is undergoing a paradigm shift. This transformation has significantly impacted rare disease diagnostics, incre…
View article: SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency
SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency Open
Inherited deficiency of the RNA lariat–debranching enzyme 1 (DBR1) is a rare etiology of brainstem viral encephalitis. The cellular basis of disease and the range of viral predisposition are unclear. We report inherited DBR1 deficiency in …
View article: Identification of the novel <i>HLA‐A*02:01:01:251</i> allele in a candidate bone marrow donor by next‐generation sequencing
Identification of the novel <i>HLA‐A*02:01:01:251</i> allele in a candidate bone marrow donor by next‐generation sequencing Open
A single nucleotide mismatch within intron 1 differentiates HLA‐A*02:01:01:251 from the HLA‐A*02:01:01:01 allele.
View article: Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels
Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels Open
This report illustrates a case that would have been missed in the most common screening algorithms used worldwide in newborn screening (NBS) for severe combined immunodeficiency (SCID). Our patient presented with a clinical picture that su…
View article: Supplemental figure S1-S7 from Urinary Bladder Cancer Tregs Suppress MMP2 and Potentially Regulate Invasiveness
Supplemental figure S1-S7 from Urinary Bladder Cancer Tregs Suppress MMP2 and Potentially Regulate Invasiveness Open
Supplemental figure 1 illustrates gating strategy appliead to FACS data. Supplemental figure 2 shows gene expression correlation to Treg frequency overlaid on KEGG bladder cancer pathway. Supplemental figure 3 shows expression of functiona…
View article: Tables S1, S2 and S3 from Urinary Bladder Cancer Tregs Suppress MMP2 and Potentially Regulate Invasiveness
Tables S1, S2 and S3 from Urinary Bladder Cancer Tregs Suppress MMP2 and Potentially Regulate Invasiveness Open
Table S1 shows patient characteristics. Table S2 summarizes the antibodies used. Table S3 shows primer sequences used.
View article: Tables S1, S2 and S3 from Urinary Bladder Cancer Tregs Suppress MMP2 and Potentially Regulate Invasiveness
Tables S1, S2 and S3 from Urinary Bladder Cancer Tregs Suppress MMP2 and Potentially Regulate Invasiveness Open
Table S1 shows patient characteristics. Table S2 summarizes the antibodies used. Table S3 shows primer sequences used.
View article: Data from Urinary Bladder Cancer Tregs Suppress MMP2 and Potentially Regulate Invasiveness
Data from Urinary Bladder Cancer Tregs Suppress MMP2 and Potentially Regulate Invasiveness Open
Regulatory T cells (Treg) have long been considered one-sided suppressors of antitumor immune responses and hence associated with poor patient outcome in cancer. However, evidence is mounting of a paradoxical positive prognostic effect of …
View article: Supplemental figure S1-S7 from Urinary Bladder Cancer Tregs Suppress MMP2 and Potentially Regulate Invasiveness
Supplemental figure S1-S7 from Urinary Bladder Cancer Tregs Suppress MMP2 and Potentially Regulate Invasiveness Open
Supplemental figure 1 illustrates gating strategy appliead to FACS data. Supplemental figure 2 shows gene expression correlation to Treg frequency overlaid on KEGG bladder cancer pathway. Supplemental figure 3 shows expression of functiona…
View article: Data from Urinary Bladder Cancer Tregs Suppress MMP2 and Potentially Regulate Invasiveness
Data from Urinary Bladder Cancer Tregs Suppress MMP2 and Potentially Regulate Invasiveness Open
Regulatory T cells (Treg) have long been considered one-sided suppressors of antitumor immune responses and hence associated with poor patient outcome in cancer. However, evidence is mounting of a paradoxical positive prognostic effect of …
View article: Correction: Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
Correction: Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency Open
status: Published
View article: Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency Open
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 and III I…
View article: First Year of TREC-Based National SCID Screening in Sweden
First Year of TREC-Based National SCID Screening in Sweden Open
Screening for severe combined immunodeficiency (SCID) was introduced into the Swedish newborn screening program in August 2019 and here we report the results of the first year. T cell receptor excision circles (TRECs), kappa-deleting eleme…
View article: Additional file 3 of Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Additional file 3 of Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients Open
Additional file 3: Table S7. List of genes and variants reported in cases.
View article: Additional file 2 of Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Additional file 2 of Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients Open
Additional file 2: Table S6. Panel gene lists.
View article: Frequent platelet donation is associated with lymphopenia and risk of infections: A nationwide cohort study
Frequent platelet donation is associated with lymphopenia and risk of infections: A nationwide cohort study Open
Background Recently, plateletpheresis donations using a widely used leukoreduction system (LRS) chamber have been associated with T‐cell lymphopenia. However, clinical health consequences of plateletpheresis‐associated lymphopenia are stil…
View article: Drug Tolerant Anti-drug Antibody Assay for Infliximab Treatment in Clinical Practice Identifies Positive Cases Earlier
Drug Tolerant Anti-drug Antibody Assay for Infliximab Treatment in Clinical Practice Identifies Positive Cases Earlier Open
A subgroup of patients treated with infliximab lose response to the treatment and one reason for this is the development of anti-drug antibodies (ADA). If used optimally, measuring drug and ADA level could lead to a more personalized and e…
View article: Tumour‐associated B cells in urothelial urinary bladder cancer
Tumour‐associated B cells in urothelial urinary bladder cancer Open
Tumour infiltrating B cells and CD38 + plasma cells have been correlated with survival in different malignancies but their role in urinary bladder cancer is unclear. IL‐10 is a multifunctional cytokine with both anti‐inflammatory and immun…
View article: Association of female sex and positive rheumatoid factor with low serum infliximab and anti-drug antibodies, related to treatment failure in early rheumatoid arthritis: results from the SWEFOT trial population
Association of female sex and positive rheumatoid factor with low serum infliximab and anti-drug antibodies, related to treatment failure in early rheumatoid arthritis: results from the SWEFOT trial population Open
Objective: Infliximab-treated patients with rheumatoid arthritis (RA) may respond insufficiently due to low serum infliximab (sIFX) levels, caused by anti-drug antibodies (ADAs). However, monitoring of sIFX and ADAs is not routinely implem…
View article: <scp>CCR</scp>2 upregulated on peripheral T cells in osteoarthritis but not in bone marrow
<span>CCR</span>2 upregulated on peripheral T cells in osteoarthritis but not in bone marrow Open
Osteoarthritis ( OA ) is a condition affecting millions of patients around the world, causing pain and disability and often resulting in joint replacement surgery. The aetiology of OA has long been attributed to mechanical wear mainly due …
View article: Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report
Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report Open
There is still no specific phenotype identified that distinguishes immunodeficiency caused by PGM3 mutations from other forms of immunodeficiency. The patient described here yields new information on the phenotypic variability among these …
View article: “Immune” Thrombocytopenia as Key Feature of a Novel ADA2 Deficiency Variant: Implication on Differential Diagnostics of ITP in Children
“Immune” Thrombocytopenia as Key Feature of a Novel ADA2 Deficiency Variant: Implication on Differential Diagnostics of ITP in Children Open
Thrombocytopenia presenting during early childhood is most commonly diagnosed as immune/idiopathic thrombocytopenic purpura (ITP), where the antibody-mediated destruction of thrombocytes is often transient. If treatment is indicated, the m…
View article: Serum-Infliximab Trough Levels in 45 Children with Inflammatory Bowel Disease on Maintenance Treatment
Serum-Infliximab Trough Levels in 45 Children with Inflammatory Bowel Disease on Maintenance Treatment Open
The role of trough serum infliximab (s-IFX) and antibodies toward IFX (ATI) during maintenance treatment remains unclear in children. The aim of the present study was to investigate trough s-IFX and ATI to identify any correlation with inf…
View article: Sentinel node detection in muscle-invasive urothelial bladder cancer is feasible after neoadjuvant chemotherapy in all pT stages, a prospective multicenter report
Sentinel node detection in muscle-invasive urothelial bladder cancer is feasible after neoadjuvant chemotherapy in all pT stages, a prospective multicenter report Open
Sentinel node detection in MIBC is feasible also in NAC patients, regardless of pT stage. SNd played no role in nodal staging.