Immune dysregulation caused by homozygous mutations in CBLB

CBL-B is an E3 ubiquitin ligase that ubiquitinates proteins downstream of immune receptors to downregulate positive signaling cascades. Distinct homozygous mutations in CBLB were identified in 3 unrelated children with early-onset autoimmunity, one of whom also had chronic urticaria. Patient T cells...

Descripción completa

Detalles Bibliográficos
Autores principales: Janssen, Erin, Peters, Zachary, Alosaimi, Mohammed F., Smith, Emma, Milin, Elena, Stafstrom, Kelsey, Wallace, Jacqueline G., Platt, Craig D., Chou, Janet, El Ansari, Yasmeen S., Al Farsi, Tariq, Ameziane, Najim, Al-Ali, Ruslan, Calvo, Maria, Rocha, Maria Eugenia, Bauer, Peter, Al-Sannaa, Nouriya Abbas, Al Sukaiti, Nashat Faud, Alangari, Abdullah A., Bertoli-Avella, Aida M., Geha, Raif S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Concise Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9566886/
https://www.ncbi.nlm.nih.gov/pubmed/36006710
http://dx.doi.org/10.1172/JCI154487

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9566886/
https://www.ncbi.nlm.nih.gov/pubmed/36006710
http://dx.doi.org/10.1172/JCI154487

Ejemplares similares