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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...
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...
Original Article
The Effect of Long-term Steroid Therapy on Cardiac Function in Nephrotic Syndrome
Jae-Goo Lee, Hong-Ryang Gil, Jae-Ho Lee, Yong-Hun Chung
Clin Exp Pediatr. 1999;42(1):102-107.   Published online January 15, 1999
Purpose : The aim of this study is to assess the cardiac effect of long-term steroid therapy in nephrotic syndrome and the validity of LV functional parameters as an early predictor of subclinical cardiac dysfunction. Methods : The study group was composed of 21 patients diagnosed as minimal change nephrotic syndrome(NS), being managed with prednisone over 6 months or within 6...
Studies on the B Cell Proliferation and Differentiation Factors in Human B Cell System
Kwang-Ju Lee, Young-Hun Chung, Jae-Ho Lee
Clin Exp Pediatr. 1994;37(10):1386-1396.   Published online October 15, 1994
We have studied the function of lymphokines on human tonsillar B cell proliferation and differentiation. B cells were stimulated with Staphylococcus aureus Cowan1(SAC) or anti-μ bead. The followings showed the results of this study. 1) In B cell activation, SAC induced B cell DNA synthesis but anti-μ bead did not. SAC could activate and proliferate B cells. Minimal number of B cells...
The Roles of IgG and Albumin as a Predictor of Frequent Relapse
Jae-Ho Lee, Jong-Gyun Kim
Clin Exp Pediatr. 1994;37(9):1245-1250.   Published online September 15, 1994
The etiology of nephrotic syndrome is unknown. The characterization were proteinuria, hypoalbuminemia, generalized edema and hyperlipidemia. To assess the recurrence factors in the nephrotic syncrome, we measured serum immunoglobulin(IgG, IgA, IgM), albumin, complement, cholesterol and the 24-hour total urine protein at the initial relapse of nephrotic syndrome. Each data of frequent and infrequent relapsed nephrotic syndrome were compared. In total...
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