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Original Article
Characterization of Bruton's Tyrosine Kinase Genetic Mutations in One Korean X-linked Agammaglobulinemia Family
Eun-Kyeong Jo, Chang-Hwa Song, Jeong-Kyu Park, Young-Jong Baek, Hye-Young Rhu, Jae-Ho Lee, Tai-Ju Hwang, Hoon Kook
Clin Exp Pediatr. 2002;45(2):183-191.   Published online February 15, 2002
Purpose : X-linked agammaglobulinemia(XLA) is an immunodeficiency caused by abnormalities in Bruton's tyrosine kinase(Btk), and is characterized by a deficiency of peripheral blood B cells. We studied the cytoplasmic expression of Btk protein and analyzed the Btk gene in peripheral blood mononuclear cells from two siblings and one cousin with XLA, as well as additional family members. Methods : Btk...
Case Report
Identification of a Novel Mutation of Bruton`s Tyrosine Kinase(BTK) Gene in a X-linked Agammaglobulinemia(XLA) Family
Young-Jong Baek, Jae-Ho Lee, Jung-Soo Kim, Chang-Hwa Song, Jeong-Kyu Park, Hwa-Jung Kim, Eun-Kyeong Jo
Clin Exp Pediatr. 2000;43(12):1599-1607.   Published online December 15, 2000
X-linked agammaglobulinemia(XLA) is a heritable humoral immunodeficiency disease characterized by inefficient expansion of pre-B cells into later B cell stages or incomplete differentiation of B cell precursors to pre-B cells. The gene mutated in XLA was identified as a cytoplasmic tyrosine kinase, named Bruton`s tyrosine kinase(BTK). In this report we investigated the characteristics of immune cells, the patterns of intracellular...
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