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Case Report
Immunology
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia
Jeongeun Lee, Minhee Rhee, Taek Ki Min, Hae In Bang, Mi-Ae Jang, Eun-Suk Kang, Hee-Jin Kim, Hyeon-Jong Yang, Bok Yang Pyun
Clin Exp Pediatr. 2016;59(Suppl 1):S49-S52.   Published online November 30, 2016

X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton’s tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, this absence leads to a profound deficiency of lg all isotypes, and an increased susceptibility to encapsulated bacterial infections. A 15-month-old Korean boy...

Original Article
Characterization of Mutations in Bruton's Tyrosine Kinase(Btk) Gene from Unrelated 3 X-linked Agammaglobulinemia(XLA) Families in Korea
Chang-Hwa Song, Eun-Kyeong Jo, Jeong-Kyu Park, Jung-Soo Kim, Soo-Jong Hong, Jae-Ho Lee
Clin Exp Pediatr. 2002;45(3):302-310.   Published online March 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 cytoplasmic expression of Btk protein and analyzed the Btk gene in peripheral blood mononuclear cells(PBMC) from three XLA families in Korea. Methods : Heparinized venous blood samples were collected from four XLA patients...
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...
Protein and Genetic Analysis of Bruton's Tyrosine Kinase(Btk) in Three Korean X-linked Agammaglobulinemia(XLA) Families
Eun-Kyeong Jo, Chang-Hwa Song, Jeong-Kyu Park, Oh Kyung Lee, Dong-Soo Kim
Clin Exp Pediatr. 2002;45(1):44-54.   Published online January 15, 2002
Purpose : Mutations in the Bruton' s tyrosine kinase(Btk) gene are responsible for X-linked agammaglobulinemia( XLA), an immunodeficiency caused by a block in B cell differentiation. In this report we characterize the protein expression and genetic mutations of Btk in four Korean patients with three unrelated XLA families. Methods : The resulting Btk proteins were characterized by a flow cytometry and the mutations were analyzed...
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...