BTK mutations selectively regulate BTK expression and upregulate monocyte XBP1 mRNA in XLA patients.

ABSTRACT: Mutations in the Bruton agammaglobulinemia tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA). Unfolded or misfolded proteins can trigger stress pathways in the endoplasmic reticulum (ER), known as unfolded protein response (UPR). The aim was to clarify the involvement of UPR in XLA pathophysiology. By reverse transcription-quantitative PCR, we evaluated the expression of BTK and 12 UPR-related genes in eight patients. Moreover, we assessed the BTK protein expression and pattern in the patients' monocytes by flow cytometry and fluorescence immunocytochemistry. We found a reduced BTK expression in patients with stop codon mutations (P?

SUBMITTER: Teocchi MA 

PROVIDER: S-EPMC4578518 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature