Contribution of HLA and KIR Alleles to Systemic Sclerosis Susceptibility and Immunological and Clinical Disease Subtypes

Autor: Aimee L. Hanson, Joanne Sahhar, Gene-Siew Ngian, Janet Roddy, Jennifer Walker, Wendy Stevens, Mandana Nikpour, Shervin Assassi, Susanna Proudman, Maureen D. Mayes, Tony J. Kenna, Matthew A. Brown

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Systemic sclerosis (SSc) is an autoinflammatory, fibrotic condition of unknown aetiology. The presence of detectable autoantibodies against diverse nuclear antigens, as well as strong HLA associations with disease, suggest autoimmune involvement, how

Externí odkaz: https://doaj.org/article/67d79eafa0f8430bac0e6f529a57a82d

Contribution of HLA and KIR Alleles to Systemic Sclerosis Susceptibility and Immunological and Clinical Disease Subtypes

Autor: Hanson, Aimee L, Sahhar, Joanne, Ngian, Gene-Siew, Roddy, Janet, Walker, Jennifer, Stevens, Wendy, Nikpour, Mandana, Assassi, Shervin, Proudman, Susanna, Mayes, Maureen D, Kenna, Tony J, Brown, Matthew A

Publikováno v: Frontiers in Genetics. 13

Systemic sclerosis (SSc) is an autoinflammatory, fibrotic condition of unknown aetiology. The presence of detectable autoantibodies against diverse nuclear antigens, as well as strong HLA associations with disease, suggest autoimmune involvement, how

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f02cbb8a61f1136e42437d236125b464

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

Autor: Capucine Picard, Joëlle Khourieh, Jane Peake, Antoine Guérin, Bertrand Boisson, Aziz Bousfiha, Jamila El Baghdadi, David Hum, Takaki Asano, Jean-Laurent Casanova, Andrew Williams, Simon J. Pelham, Stéphanie Boisson-Dupuis, Peng Zhang, Maya Chrabieh, Luke Droney, Wei-Te Lei, Ilham Fadil, Ji Eun Han, András N Spaan, Qian Zhang, Nevin Hatipoğlu, Franck Rapaport, Anne Puel, Tanwir Habib, Nico Marr, Fatih Celmeli, Vivien Béziat, Joseph Mackie, Biman Saikia, Stuart G. Tangye, Laurent Abel, Tayfun Ozcelik, Juan Li, Sudhir Gupta, Luckshman Ganeshanandan

Publikováno v: The Journal of Experimental Medicine

Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) are heterozygous for rare STAT3 variants. The mechanism of dominance was recently questioned. The authors show that both in-frame and out-of-frame STAT3 variants underlie AD-HIES by n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa842dbc39abc34a82a13ae4ba108480
http://europepmc.org/articles/PMC8217968

SARS-CoV-2-related MIS-C:A key to the viral and genetic causes of Kawasaki disease?

Autor: Sancho-Shimizu, Vanessa, Brodin, Petter, Cobat, Aurélie, Biggs, Catherine M., Toubiana, Julie, Lucas, Carrie L., Henrickson, Sarah E., Belot, Alexandre, Haddad, Elie, Beland, Kathie, Pujol, Aurora, Schlüter, Agatha, Planas-Serra, Laura, Aguilera-Albesa, Sergio, Valencia-Ramos, Juan, Rodríguez-Palmero, Agustí, Gut, Marta, Rivière, Jacques G., Colobran, Roger, Soler-Palacin, Pere, Rodriguez-Gallego, Carlos, Perez De Diego, Rebeca, Flores, Carlos, Alsina, Laia, Blazquez-Gamero, Daniel, Jordan, Iolanda, Keles, Sevgi, Emiroglu, Melike, Akcan, Ozge Metin, Alkan, Gulsum, Aytekin, Selma Erol, Gul, Yahya, Tüter Öz, Şadiye Kübra, Bozdemir, Sefika Elmas, Bayhan, Gulsum Iclal, Yüksek, Saliha Kanık, Parlakay, Aslınur Özkaya, Gülhan, Belgin, Yahşi, Aysun, Kilic, Ahmet Osman, Karbuz, Adem, Erdeniz, Emine Hafize, Özkan, Esra Akyüz, Orbak, Zerrin, Aydemir, Şehnaz, Celik, Jale Bengi, Kandemir, Bahar, Aytekin, Gökhan, Kapakli, Hasan, Yarar, Volkan, Yosunkaya, Alper, Vatansev, Hulya, Aytekin, Caner, Torun, Selda Hancerli, Nepesov, Serdar, Coskuner, Taner, Sözeri, Betül, Demirkol, Yasemin Kendir, Kasapcopur, Ozgur, Yıldız, Mehmet, Sevketoglu, Esra, Hatipoğlu, Nevin, Özçelik, Tayfun, Yesilbas, Osman, Gayretli Aydin, Zeynep Gökçe, Sediva, Anna, Klocperk, Adam, Bloomfield, Marketa, Meyts, Isabelle, Delafontaine, Selket, Haerynck, Filomeen, Hoste, Levi, Shahrooei, Mohammad, Marque, Laura, Neves, João Farela, Novelli, Giuseppe, Novelli, Antonio, Aiuti, Alessandro, Casari, Giorgio, Bousfiha, Amed Aziz, Almuhsen, Saleh Zaid, Sobh, Ali, Gagro, Alenka, Bajolle, Fanny, Bonnet, Damien, Lebon, Pierre, Lei, Weite, Lee, Danyel, Seeleuthner, Yoann, Zhang, Peng, Maglorius, Majistor, Philippot, Quentin, Pelham, Simon, Bastard, Paul, Zhang, Qian, Jouanguy, Emmanuelle, Puel, Anne, Herberg, Jethro, Kuijpers, Taco W, Bellos, Evangelos, Kaforou, Myrsini, Menikou, Stephanie, Pan-Hammarström, Qiang, Hammarström, Lennart, Abolhassani, Hassan, Bryceson, Yenan, Condino-Neto, Antonio, Prando, Carolina, Bando, Silvia Yumi, Cavalcanti, Andre, Fellay, Jacques, Blanchard-Hohner, Giradine, Mansouri, Davood, Mahmoudi, Shima, Boyarchuk, Oksana, Volokha, Alla, Bondarenko, Anastasiia, Stepanovskiy, Yuriy, Mogensen, Trine, van de Beek, Diederik, Andreakos, Evangelos, Papadaki, Maria, Abou Tayoun, Ahmad, Halwani, Rabih, Al-Mulla, Fahd, Franco, José Luis, Lau, Yu-Lung, Kwan, Mike, Imai, Kohsuke, Okada, Satoshi, Bolze, Alexandre, Butte, Manish J., Hsieh, Elena, Drolet, Beth A, Arkin, Lisa, Itan, Yuval, Maniatis, Tom, Arditi, Moshe, Cooper, Megan, Schmitt, Erica, Chakravorty, Samya, Anderson, Mark S., Su, Helen C., Notarangelo, Luigi D., MIS-C@CHGE, [missing], Tangye, Stuart G., Milner, Joshua D., Levin, Michael, Abel, Laurent, Bogunovic, Dusan, Casanova, Jean-Laurent, Zhang, Shen-Ying

Publikováno v: Sancho-Shimizu, V, Brodin, P, Cobat, A, Biggs, C M, Toubiana, J, Lucas, C L, Henrickson, S E, Belot, A, Tangye, S G, Milner, J D, Levin, M, Abel, L, Bogunovic, D, Casanova, J L, Zhang, S Y & MIS-CCHGE 2021, ' SARS-CoV-2-related MIS-C : A key to the viral and genetic causes of Kawasaki disease? ', Journal of Experimental Medicine, vol. 218, no. 6, e20210446 . https://doi.org/10.1084/jem.20210446
The Journal of Experimental Medicine
Journal of Experimental Medicine
Journal of Experimental Medicine, 2021, 218 (6), ⟨10.1084/jem.20210446⟩
JOURNAL OF EXPERIMENTAL MEDICINE

SARS-CoV-2 is the trigger of MIS-C, which suggests that other viruses may trigger different forms of Kawasaki disease. The discovery of inborn errors of immunity underlying MIS-C would facilitate that of inborn errors of immunity to viruses underlyin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77cce3fbd5087b9f609b3145f66e749a
https://pure.au.dk/portal/da/publications/sarscov2related-misc(78e24f0b-630f-4730-bc8e-6ca40354d18d).html

I SPI1 something needed for B cells

Autor: Vijay G. Sankaran, Lara Wahlster

Publikováno v: The Journal of Experimental Medicine

PU.1 haploinsufficiency reduces the access of key transcription factors to open chromatin regions, undermines essential stage-specific transcriptional programs, and arrests human B cell development at the pro– to pre–B cell transition.
The p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e087f9dd5ef1c0f1f59fdebc1f6206f7
https://pubmed.ncbi.nlm.nih.gov/33951726