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- Title
Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings.
- Authors
Saheb Sharif-Askari, Narjes; Hafezi, Shirin; Saheb Sharif-Askari, Fatemeh; Frommenwiler, Naomi; Halwani, Rabih
- Abstract
However, in XLA patients, BTK deficiency inhibits the maturation of pro-B cells into later stages of pre-B cells in the B cell differentiation pathway [[4]]. Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. XLA is caused by more than 1300 different variants in Bruton's tyrosine kinase (BTK) gene affecting all five domains of the BTK protein (http://structure.bmc.lu.se/idbase/) [[1]]. In mutant samples, BTK protein bands were shifted upward, possibly due to the positive charge caused by replacing tryptophan with basic arginine LPS and N LPS and Poly (I:C) stimulations failed to phosphorylate the BTK at Tyr223 in the probands.
- Subjects
BRUTON tyrosine kinase; GENETIC variation; INTERLEUKIN-21; IMMUNOGLOBULIN M; PRIMARY immunodeficiency diseases; AGAMMAGLOBULINEMIA; OTITIS media
- Publication
Journal of Clinical Immunology, 2023, Vol 43, Issue 7, p1533
- ISSN
0271-9142
- Publication type
Article
- DOI
10.1007/s10875-023-01534-3