#apeced 搜索结果
Vemula, Pinzon-Charry et al. describe a novel heterozygous variant in AIRE in 3 individuals with mild #APECED. This variant was validated as being pathogenic by a mechanism of negative dominance. This represents new cases of autosomal dominant APECED. hubs.la/Q03N5ByW0
Our last article about serotonin and tryptophan metabolites and gut microbiomia in Finnish #APECED patients. It took (lots of) time but the article is finally out ! ☝🏻👊🏻💪🏻 ec.bioscientifica.com/view/journals/…
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/
When a rare disease becomes less rare: #APECED and #AIRE gene included in undergrad bio courses, medical board exams @APSType1
Fangirl of Shimon since 4ever and I’m pleased that #APECED was included in the Tregopathies. #ESID2022 @APSType1
New research in @ScienceTM shows that targeting immune cell activity combats a serious lung-related complication often overlooked in patients with the autoimmune disease #APECED. fcld.ly/ulbexwp
New in @SciImmunology: @YaleIBIO @YaleMed provide a detailed glimpse into how rogue #immune cells are unleashed during rare #autoimmune disease #APECED: fcld.ly/7qu7mc1
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…
.@YaleIBIO @YaleMed provide a detailed glimpse into how rogue #immune cells are unleashed in the rare #autoimmune disease #APECED: fcld.ly/06uj9lh
We are thrilled to announce that the APS Type 1 Foundation won a $50,000 grant for general operating support from the @ChanZuckerberg Donor Advised Fund (DAF). We owe a special thanks to our Medical Advisory Committee for their grant writing support. #RareDisease #APECED
42% of patients with #APECED have pneumonitis. If it is not treated early, it can lead to infections and severe bronchiectasis. Dr. Lionakis presents the results of a comprehensive study which showed the role of the accumulation of activated immune cells in the lung disease.
News: Ovarian failure common, usually during childhood, in girls with APECED Read the full story here bit.ly/t-Ovarian-fail… #APECED #paediatrics #endocrine #ovarian #POI
Irregularities in B cell activity may help explain the beginnings of a rare #autoimmune disorder #APECED with symptoms that range from persistent #Candida infection to #thyroid issues, @YaleIBIO @YaleMed scientists found: fcld.ly/qvl7zez
Delighted to have welcomed Professor Geraldo Passos from the University of São Paulo, Brazil, in our team for 2 weeks 🇧🇷🇫🇷 #Thymus #APECED #AIREgene #Tcells #Immunology @CIML_Immunology
Meet Todd! He serves as the President and Chair of the APS Type 1 Foundation. Todd founded the APS Type 1 foundation with the Seyfert family in 2014 and has been a fearless leader ever since. #APECED #raredisease #APS1 #Leadership
Jak-Inhibitor Ruxolitinib bei autoimmunem polyendokrinem Syndrom Typ 1 wirksam: Bethesda/Maryland – US-Mediziner haben herausgefunden, dass es beim autoimmunen polyendokrinen Syndrom vom Typ 1 zu einer vermehrten Produktion von… dlvr.it/T8DJ9v #APECED #NEJM
From our NIH study team, check out this article highlighting the progress they’ve made diagnosing and treating #APECED #pneumonitis. ncbi.nlm.nih.gov/pmc/articles/P…
New research from the Lionakis lab reveals many patients with #APECED harbored previously-undiagnosed #pneumonitis, which was resolved with immunomodulatory drugs. @NIAIDNews fcld.ly/7t677o4
Long-term Outcome of Kidney #Transplantation in 6 Patients With Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (#APECED). @TransplantJrnl ow.ly/a5Q050Ha25S
Vemula, Pinzon-Charry et al. describe a novel heterozygous variant in AIRE in 3 individuals with mild #APECED. This variant was validated as being pathogenic by a mechanism of negative dominance. This represents new cases of autosomal dominant APECED. hubs.la/Q03N5ByW0
APECED is a rare genetic disorder characterized by problems with the immune system. People with APECED typically have chronic Candida yeast infections and various autoimmune problems. Read more about APECED, including symptoms and treatment. #APECED storymd.com/journal/oja6kg…
storymd.com
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)
APECED is a rare disorder characterized by problems with the immune system. People with APECED typically have chronic Candida yeast infections and various autoimmune problems.
By applying whole-exome & whole-genome sequencing to blood samples from individuals with the deadly autoimmune disorder #APECED, researchers have identified a causal gene variant & learned how it contributes to the condition. In @ScienceTM: science.org/doi/10.1126/sc…
The #NIAID-led discovery of a gene variant causing some cases of #APECED, a deadly inherited #RareDisease, will facilitate earlier diagnosis and medical care that may prolong lives and has led to the design of a potential treatment: go.nih.gov/POeRr5G #NIH 📷 Credit: NHGRI
@IivoHetemaki @jsarkkine et al. found a negative association between #MAIT freq & plasma IFN-g in #APECED. Again this #raredisease can teach us something more general, now about these innate-Ts - they’re depleted in chronic inflammation whatever the cause. @APSType1 @TRIMMprogram
A screening study of #APECED patients by researchers at @NIH identifies a genetic variant that can cause the #autoimmune disease through cryptic splicing of the AIRE gene in those of Puerto Rican descent. scim.ag/8nr
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/10.1002/ej…
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…
Decreased T-cell response against latent cytomegalovirus infection does not correlate with anti-IFN autoantibodies in patients with #APECED – New article in Journal of Pathology, Microbiology & Immunology -> onlinelibrary.wiley.com/doi/10.1111/ap… @WileyBiomedical @WileyHealth #AIRE
Jak-Inhibitor Ruxolitinib bei autoimmunem polyendokrinem Syndrom Typ 1 wirksam: Bethesda/Maryland – US-Mediziner haben herausgefunden, dass es beim autoimmunen polyendokrinen Syndrom vom Typ 1 zu einer vermehrten Produktion von… dlvr.it/T8DJ9v #APECED #NEJM
#APECED heikentää prenataalista ja lapsuusiän kasvua. #lapset #kasvu laakarilehti.fi/tieteessa/laak…
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/
Congratulations Viivi, for successfully defending your doctoral dissertation! Full text available here: urn.fi/URN:ISBN:978-9…… @HelsinkiUniMed #APECED #doctoraldissertation #FHRC #research #science
Congratulations Joonatan, for successfully defending your doctoral dissertation! Full text available here: urn.fi/URN:ISBN:978-9… @helsinkiunimed #APECED #doctoraldissertation #fhrc #research #science
Delighted to have welcomed Professor Geraldo Passos from the University of São Paulo, Brazil, in our team for 2 weeks 🇧🇷🇫🇷 #Thymus #APECED #AIREgene #Tcells #Immunology @CIML_Immunology
42% of patients with #APECED have pneumonitis. If it is not treated early, it can lead to infections and severe bronchiectasis. Dr. Lionakis presents the results of a comprehensive study which showed the role of the accumulation of activated immune cells in the lung disease.
Let's begin with the #VallHebronTalks by #VHIR by Dr. Mihalis S. Lionakis (@NIH). He explains that #APECED is caused by a mutation in the AIRE gene, which is related to autoimmunity. 🔗 Watch it online: gencat.zoom.us/j/92144038494
Vemula, Pinzon-Charry et al. describe a novel heterozygous variant in AIRE in 3 individuals with mild #APECED. This variant was validated as being pathogenic by a mechanism of negative dominance. This represents new cases of autosomal dominant APECED. hubs.la/Q03N5ByW0
.@YaleIBIO @YaleMed provide a detailed glimpse into how rogue #immune cells are unleashed in the rare #autoimmune disease #APECED: fcld.ly/06uj9lh
Our last article about serotonin and tryptophan metabolites and gut microbiomia in Finnish #APECED patients. It took (lots of) time but the article is finally out ! ☝🏻👊🏻💪🏻 ec.bioscientifica.com/view/journals/…
When a rare disease becomes less rare: #APECED and #AIRE gene included in undergrad bio courses, medical board exams @APSType1
Irregularities in B cell activity may help explain the beginnings of a rare #autoimmune disorder #APECED with symptoms that range from persistent #Candida infection to #thyroid issues, @YaleIBIO @YaleMed scientists found: fcld.ly/qvl7zez
New in @SciImmunology: @YaleIBIO @YaleMed provide a detailed glimpse into how rogue #immune cells are unleashed during rare #autoimmune disease #APECED: fcld.ly/7qu7mc1
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 research in @ScienceTM shows that targeting immune cell activity combats a serious lung-related complication often overlooked in patients with the autoimmune disease #APECED. fcld.ly/ulbexwp
Delighted to have welcomed Professor Geraldo Passos from the University of São Paulo, Brazil, in our team for 2 weeks 🇧🇷🇫🇷 #Thymus #APECED #AIREgene #Tcells #Immunology @CIML_Immunology
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…
News: Ovarian failure common, usually during childhood, in girls with APECED Read the full story here bit.ly/t-Ovarian-fail… #APECED #paediatrics #endocrine #ovarian #POI
#New: Part of #AIRE KO phenotype (#APECED in humans) is dictated by gamma-delta #TCells. #autoimmune bit.ly/2fxK4Vc
Fangirl of Shimon since 4ever and I’m pleased that #APECED was included in the Tregopathies. #ESID2022 @APSType1
CURSO MONITOR DE MUSCULACION DIC´15 - #cursomusculacion #apeced #gimnasio #fitness #formacion #monitormusculacion
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