3 Aug 2025
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
31 Jul 2025
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
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31 Jul 2025
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
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1,731
31 Jul 2025
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
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19 Sep 2024
We found in #APECED #APS1 patients decreased % of #MAIT in circulation that closely correlated with elevated serum IFNg. Out in @EurJImmunol! @IivoHetemaki
Th1 immune dysregulation might cause reduced MAITs also in many other #inbornerrorofimmunity.
onlinelibrary.wiley.com/doi/……
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19 Sep 2024
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/…
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5 May 2024
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/3812…
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27 Apr 2024
27 Apr 2024
🧬 inborn error of immunity 🧬
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◾️ 🆕/novel CTSC mutation in P-L syndrome
pubmed.ncbi.nlm.nih.gov/3807…
◾️ STAT1 g-o-f in a child with severe infection🦠 history
pubmed.ncbi.nlm.nih.gov/3808…
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16 Mar 2023
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
15 Mar 2023
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
ALT Visual Abstract for the article titled "Prediagnostic Appearance of Thrombospondin Type-1 Domain 7A Autoantibodies in Membranous Nephropathy"
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24 Sep 2020
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/resour…
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