Article
Immune dysregulation caused by homozygous mutations in CBLB.
The Journal of clinical investigation - 17 Oct 2022
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
Abstract excerpt
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 exhibited hyperproliferation in response to anti-CD3 cross-linking. One of the mutations, p.R496X, abolished CBL-B...
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