#inbornerrorofimmunity search results
The final manuscript of my PhD thesis is now available in @jacionline! We studied an #inbornerrorofimmunity #APECED and found dysregulated germinal center reaction with expanded follicular T helper cells to underlie B cell pathology in the disease. ⛓️1/12 pubmed.ncbi.nlm.nih.gov/38128835/
New in @JExpMed: Fu et al. identify biallelic germline ASXL1 variants as the cause of a novel #InbornErrorOfImmunity, linking ASXL1 deficiency to epigenetic dysregulation, combined immune deficiency, chronic viral infections, & malignancy hubs.la/Q03zN5pk0
Fu et al. identify biallelic germline ASXL1 variants as the cause of a novel #InbornErrorOfImmunity, linking ASXL1 deficiency to epigenetic dysregulation, combined immune deficiency, chronic viral infections, & malignancy hubs.la/Q03zN1bK0
We found in #APECED patients decreased % of #MAIT in circulation that closely correlated with elevated serum IFNg. Out in @EurJImmunol! Heightened type 1 immune dysregulation might be behind MAIT reduction also in many other #inbornerrorofimmunity. onlinelibrary.wiley.com/doi/10.1002/ej…
Proud to have worked with Dr. Catherine Biggs and @koborlab to add a new human #InbornErrorOfImmunity to the list! @GenomeBC @UBC @CIHR_IRSC @CIHR_IHDCYH @BCCHresearch @_HealthyStarts
New in @JExpMed: Fu et al. identify biallelic germline ASXL1 variants as the cause of a novel #InbornErrorOfImmunity, linking ASXL1 deficiency to epigenetic dysregulation, combined immune deficiency, chronic viral infections, & malignancy hubs.la/Q03zN5pk0
A fast and reliable #genetic diagnosis of an #inbornerrorofimmunity can improve treatment & follow-up strategies for patients and families. In our next webinar, we discuss what #genetictesting for #immunology can offer & what a high-quality test includes. blueprintgenetics.com/resources/gene…
Happy to have been a part of this collaboration with @NIDDKgov to expand the literature on membranous nephropathy, including in one patient with the #inbornerrorofimmunity HA20
Pathogenic autoantibodies against THSD7A are present in approximately 3% of patients with membranous nephropathy (MN). This study describes a novel LIPS immunoassay for detecting THSD7A ABs & adds to literature on THSD7A-associated MN bit.ly/KID0005112022wk @SchwartzLab9
Researchers discover new #geneticdisorder causing #immunodeficiency and susceptibility to opportunistic infections. Discovery to help identify people with #InbornErrorofImmunity, half of whom currently lack a genetic diagnosis. bit.ly/3wix5wy #immunology #fungalpneumonia
Proud to have worked with Dr. Catherine Biggs and @koborlab to add a new human #InbornErrorOfImmunity to the list! @GenomeBC @UBC @CIHR_IRSC @CIHR_IHDCYH @BCCHresearch @_HealthyStarts
New in @JExpMed: Fu et al. identify biallelic germline ASXL1 variants as the cause of a novel #InbornErrorOfImmunity, linking ASXL1 deficiency to epigenetic dysregulation, combined immune deficiency, chronic viral infections, & malignancy hubs.la/Q03zN5pk0
New in @JExpMed: Fu et al. identify biallelic germline ASXL1 variants as the cause of a novel #InbornErrorOfImmunity, linking ASXL1 deficiency to epigenetic dysregulation, combined immune deficiency, chronic viral infections, & malignancy hubs.la/Q03zN5pk0
Fu et al. identify biallelic germline ASXL1 variants as the cause of a novel #InbornErrorOfImmunity, linking ASXL1 deficiency to epigenetic dysregulation, combined immune deficiency, chronic viral infections, & malignancy hubs.la/Q03zN1bK0
We found in #APECED patients decreased % of #MAIT in circulation that closely correlated with elevated serum IFNg. Out in @EurJImmunol! Heightened type 1 immune dysregulation might be behind MAIT reduction also in many other #inbornerrorofimmunity. onlinelibrary.wiley.com/doi/10.1002/ej…
The final manuscript of my PhD thesis is now available in @jacionline! We studied an #inbornerrorofimmunity #APECED and found dysregulated germinal center reaction with expanded follicular T helper cells to underlie B cell pathology in the disease. ⛓️1/12 pubmed.ncbi.nlm.nih.gov/38128835/
Happy to have been a part of this collaboration with @NIDDKgov to expand the literature on membranous nephropathy, including in one patient with the #inbornerrorofimmunity HA20
Pathogenic autoantibodies against THSD7A are present in approximately 3% of patients with membranous nephropathy (MN). This study describes a novel LIPS immunoassay for detecting THSD7A ABs & adds to literature on THSD7A-associated MN bit.ly/KID0005112022wk @SchwartzLab9
Researchers discover new #geneticdisorder causing #immunodeficiency and susceptibility to opportunistic infections. Discovery to help identify people with #InbornErrorofImmunity, half of whom currently lack a genetic diagnosis. bit.ly/3wix5wy #immunology #fungalpneumonia
A fast and reliable #genetic diagnosis of an #inbornerrorofimmunity can improve treatment & follow-up strategies for patients and families. In our next webinar, we discuss what #genetictesting for #immunology can offer & what a high-quality test includes. blueprintgenetics.com/resources/gene…
New in @JExpMed: Fu et al. identify biallelic germline ASXL1 variants as the cause of a novel #InbornErrorOfImmunity, linking ASXL1 deficiency to epigenetic dysregulation, combined immune deficiency, chronic viral infections, & malignancy hubs.la/Q03zN5pk0
Fu et al. identify biallelic germline ASXL1 variants as the cause of a novel #InbornErrorOfImmunity, linking ASXL1 deficiency to epigenetic dysregulation, combined immune deficiency, chronic viral infections, & malignancy hubs.la/Q03zN1bK0
The final manuscript of my PhD thesis is now available in @jacionline! We studied an #inbornerrorofimmunity #APECED and found dysregulated germinal center reaction with expanded follicular T helper cells to underlie B cell pathology in the disease. ⛓️1/12 pubmed.ncbi.nlm.nih.gov/38128835/
We found in #APECED patients decreased % of #MAIT in circulation that closely correlated with elevated serum IFNg. Out in @EurJImmunol! Heightened type 1 immune dysregulation might be behind MAIT reduction also in many other #inbornerrorofimmunity. onlinelibrary.wiley.com/doi/10.1002/ej…
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