title: Distinct gene expression signature in Btk-defective T1 B-cells.
abstract: Bruton's tyrosine kinase (Btk) is a cytoplasmic tyrosine kinase important for B-lymphocyte maturation. Mutations in Btk give rise to the primary immunodeficiency disease X-linked agammaglobulinemia (XLA) in man and X-linked immunodeficiency (Xid) in mice. Recent studies have subdivided the mouse immature, or transitional, B-cells into two distinct subsets according to their respective surface markers. Transitional type 1 (T1) and transitional type 2 (T2) cells are also located in distinct anatomic locations. Based on a limited number of markers it has previously been reported that the earliest phenotypic sign of Btk deficiency is manifested at the T2 stage in mice. Here, we report on distinct genome-wide transcriptomic signature differences found in T1 B-lymphocytes from Btk-defective compared to normal mice and demonstrate that Btk deficiency is visible already at this stage.
authors.affiliation: Clinical Research Center, Karolinska University Hospital, Huddinge, Sweden.
authors.forename: Jessica M
authors.initials: JM
authors.lastname: Lindvall
authors.forename: K Emelie M
authors.initials: KE
authors.lastname: Blomberg
authors.forename: Anna
authors.initials: A
authors.lastname: Berglöf
authors.forename: C I Edvard
authors.initials: CI
authors.lastname: Smith
mesh_terms: D000077329:Agammaglobulinaemia Tyrosine Kinase; D000818:Animals; D016175:B-Lymphocyte Subsets / Q000201:enzymology*; D020869:Gene Expression Profiling; D066298:In Vitro Techniques; D051379:Mice; D018345:Mice, Knockout; D011505:Protein-Tyrosine Kinases / Q000096:biosynthesis* / Q000235:genetics; D013154:Spleen / Q000166:cytology
chemical_list: D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625951:Btk protein, mouse