Bruton agammaglobulinemia

X-linked agammaglobulinemia (XLA),

an X-linked recessive B-cell immune deficiency condition, with hypo- or agammaglobulinemia; the immune deficiency becomes apparent as maternally transmitted immunoglobulin levels decline in early infancy.

Bru·ton a·gam·ma·glob·u·li·ne·mi·a

(brū'tŏn ā-gam-mă-glob'yū-lin-ē'mē-ă)
An X-linked condition, with hypo- or agammaglobulinemia; the immune deficiency becomes apparent as maternally transmitted immunoglobulin levels decline in early infancy.

Bruton,

Ogden Carr, U.S. pediatrician, 1908–.
Bruton agammaglobulinemia - genetic trait causing decreased quantity of gamma fraction of serum globulin; associated with increased susceptibility to pyogenic infections and observed in type III isolated growth hormone deficiency.
References in periodicals archive ?
Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia.
Upper respiratory tract infection alone was not found in children diagnosed with Bruton agammaglobulinemia; XLA was found with a rate of 5.3% in children who were diagnosed with URTI and other diagnoses in association and this rate was found to be statistically significantly higher compared to the children with a diagnosis of PID and in children in whom PID was not found (p<0.05).
The classical example is X-linked agammaglobulinemia, in which disease-causing variants in the gene (BTK, Bruton agammaglobulinemia tyrosine kinase) coding for Bruton's tyrosine kinase lead to arrest of B-cell development at the pre-B-cell stage (2).
By using complementary strategies of positional cloning and low-stringency cDNA library screening, two groups identified a novel src-like cytoplasmic tyrosine kinase, named Btk (Bruton agammaglobulinemia tyrosine kinase) as a strong candidate gene for XLA (89,90).