Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Anna Roppelt"'
Autor:
Giorgia Bucciol, Leen Moens, Masato Ogishi, Darawan Rinchai, Daniela Matuozzo, Mana Momenilandi, Nacim Kerrouche, Catherine M. Cale, Elsa R. Treffeisen, Mohammad Al Salamah, Bandar K. Al-Saud, Alain Lachaux, Remi Duclaux-Loras, Marie Meignien, Aziz Bousfiha, Ibtihal Benhsaien, Anna Shcherbina, Anna Roppelt, COVID Human Genetic Effort, Florian Gothe, Nadhira Houhou-Fidouh, Scott J. Hackett, Lisa M. Bartnikas, Michelle C. Maciag, Mohammed F. Alosaimi, Janet Chou, Reem W. Mohammed, Bishara J. Freij, Emmanuelle Jouanguy, Shen-Ying Zhang, Stephanie Boisson-Dupuis, Vivien Béziat, Qian Zhang, Christopher J.A. Duncan, Sophie Hambleton, Jean-Laurent Casanova, Isabelle Meyts
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 12 (2023)
STAT2 is a transcription factor activated by type I and III IFNs. We report 23 patients with loss-of-function variants causing autosomal recessive (AR) complete STAT2 deficiency. Both cells transfected with mutant STAT2 alleles and the patients’ ce
Externí odkaz:
https://doaj.org/article/93721eaae57f4e8c9405aeeff959098f
Autor:
Anna Khoreva, Ekaterina Pomerantseva, Natalia Belova, Inna Povolotskaya, Fedor Konovalov, Vladimir Kaimonov, Alena Gavrina, Sergey Zimin, Dmitrii Pershin, Nataliia Davydova, Vasilii Burlakov, Ekaterina Viktorova, Anna Roppelt, Ekaterina Kalinina, Galina Novichkova, Anna Shcherbina
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Objectives: Mutations in the neuroblastoma-amplified sequence (NBAS) gene were originally described in patients with skeletal dysplasia or isolated liver disease of variable severity. Subsequent publications reported a more complex phenotype. Among m
Externí odkaz:
https://doaj.org/article/2f8dbce0c44e4a158652d35157cd6723
Autor:
Joseph Topal, Neelam Panchal, Amairelys Barroeta, Anna Roppelt, Annelotte Mudde, H. Bobby Gaspar, Adrian J. Thrasher, Benjamin C. Houghton, Claire Booth
Publikováno v:
Journal of Clinical Immunology. 43:440-451
Background X-linked inhibitor of apoptosis protein (XIAP) deficiency is a severe immunodeficiency with clinical features including hemophagocytic lymphohistiocytosis (HLH) and inflammatory bowel disease (IBD) due to defective NOD2 responses. Manageme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ac2153d71f859be873b903841942663
https://doi.org/10.1007/s10875-022-01389-0
https://doi.org/10.1007/s10875-022-01389-0
Autor:
Florian Gothe, Jarmila Stremenova Spegarova, Catherine F. Hatton, Helen Griffin, Thomas Sargent, Sally A. Cowley, William James, Anna Roppelt, Anna Shcherbina, Fabian Hauck, Hugh T. Reyburn, Christopher J.A. Duncan, Sophie Hambleton
Publikováno v:
The Journal of allergy and clinical immunology. 150(4)
Background Inflammatory phenomena such as hyperinflammation or hemophagocytic lymphohistiocytosis are a frequent yet paradoxical accompaniment to virus susceptibility in patients with impairment of type I interferon (IFN-I) signaling caused by defici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a16403a3f5aad639873ed5c5807348c9
https://pubmed.ncbi.nlm.nih.gov/35182547
https://pubmed.ncbi.nlm.nih.gov/35182547
Autor:
Alexandra Laberko, Daria Yukhacheva, Nelly Kan, Anna Roppelt, Anna Mukhina, Yulia Rodina, Dmitry Pershin, Aristine Cheng, Michail S. Lionakis, Galina Solopova, Olga Kadnikova, Aleksandr Mushkin, Galina Novichkova, Anna Shcherbina
Publikováno v:
The Journal of Allergy and Clinical Immunology: In Practice. 10:1797-1804.e7
Bacillus Calmette-Guierin (BCG) vaccination complications are common in inborn errors of immunity (IEI) due to the inability to clear live attenuated Mycobacterium bovis. Various BCG-vaccine strains are used worldwide, and the profile of the Russian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2941630c50eff34d5836db8e7e72aad
https://doi.org/10.1016/j.jaip.2022.03.032
https://doi.org/10.1016/j.jaip.2022.03.032
