Hematopoietic stem cell gene editing rescues B-cell development in X-linked agammaglobulinemia

Antibody deficiencies are the most prevalent cause of inborn errors of immunity accounting for>50% of cases. Among these, X-linked agammaglobulinemia (XLA) represents one of the most severe forms, affecting around 1:100,000 newborn males.1 XLA arises from mutations in the gene encoding BTK, a nonreceptor tyrosine kinase, belonging to the Tec family, that promotes the maturation of B cells in the bone marrow and their activation in the periphery.2,3 At the pro –B-cell stage, the expression of BLNK, Igα, Igβ, and the RAG1- and RAG2-mediated production of Igμ lead to cell surface expression of the pre–B-cell receptor.

Source: Journal of Allergy and Clinical Immunology - March 11, 2024 Category: Allergy & Immunology Authors: Sameer Bahal, Marta Zinicola, Shefta E Moula, Thomas E. Whittaker, Andrea Schejtman, Asma Naseem, Elena Blanco, Winston Vetharoy, Yi-Ting Hu, Rajeev Rai, Eduardo Gomez-Castaneda, Catarina Cunha-Santos, Siobhan O. Burns, Emma C. Morris, Claire Booth, Giand Source Type: research