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A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia

Lee J, Rhee M, Min TK, Bang HI, Jang MA, Kang ES, Kim HJ, Yang HJ, Pyun BY

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...
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Pneumocystis jiroveci Pneumonia in a 5-month-old Boy with Agammaglobulinemia: A Case Report

Chung BH, Nam HK, Rhie YJ, Lee KC, Choung JT, Lim CH, Yoo Y

Pneumocystis jiroveci (P. jiroveci) pneumonia is known as a common opportunistic infection in patients with impaired immunity. Underlying disease or conditions related to the development of P. jiroveci pneumonia include...
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A Case of Rectal Cancer in a Patient with X-linked Agammagloubulinemia

Jeon BJ, Kim SW, Ko KS, Kim SH, Kim IH, Lee SO, Lee ST, Kim DG

  • KMID: 2304731
  • Korean J Gastrointest Endosc.
  • 2010 Dec;41(6):360-363.
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutation of the Bruton tyrosine kinase (BTK) gene. Most of the patients diagnosed X-LA suffer from recurrent infections of...
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A Case of Gastric Adenocarcinoma in a Patient with X-linked Agammaglobulinemia

Ok CS, Lee JH, Noh JW, Sohn SY, Chang BS, Ku BH, Koh WJ, Sung CO

  • KMID: 1494770
  • Korean J Gastrointest Endosc.
  • 2010 Jan;40(1):27-30.
X-linked agammaglobulinemia is a common type of primary immunodeficiency disorder that's caused by mutation of the BTK gene. The absence of B lymphocytes and plasma cells causes recurrent infections. Patients...
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A Clinical Study of Primary Immunodeficiency Disease in a Single Center in Seoul from 1996 to 2004

Lee JH, Sohn WY, Park HY, Hwang SJ, Seo WH, Kim SJ, Ahn SH, Jo EK, Ahn KM, Lee SI

  • KMID: 2314398
  • Pediatr Allergy Respir Dis.
  • 2005 Dec;15(4):368-380.
PURPOSE: Although primary immunodeficiency disorders are relatively rare, early diagnosis provides the opportunity to reduce morbidity and mortality. The aim of this study was to investigate disease distribution, clinical manifestations,...
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Characterization of Mutations in Bruton's Tyrosine Kinase(Btk)Gene from Unrelated 3 X-linked Agammaglobulinemia(XLA) Families in Korea

Song CH, Jo EK, Park JK, Kim JS, Hong SJ, Lee JH

  • KMID: 2335593
  • J Korean Pediatr Soc.
  • 2002 Mar;45(3):302-310.
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...
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Characterization of Bruton's Tyrosine Kinase Genetic Mutations in One Korean X-linked Agammaglobulinemia Family

Jo EK, Song CH, Park JK, Baek YJ, Rhu HY, Lee JH, Hwang TJ, Kook H

  • KMID: 2335577
  • J Korean Pediatr Soc.
  • 2002 Feb;45(2):183-191.
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...
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A Case of X-Linked Agammaglobulinemia Associated with Severe Neutropenia

Lee KY, Lee DK, Park JE, Lee JH, Lee MI

  • KMID: 2051393
  • Pediatr Allergy Respir Dis.
  • 2002 Dec;12(4):328-333.
X-linked agammaglobulinemia(XLA) is characterized by markedly reduced number of B lymphocytes, panhypogammaglobulinemia, recurrent bacterial infections in the first few years of life because of genetic defect for Bruton's tyrosine kinase...
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Protein and Genetic Analysis of Bruton's Tyrosine Kinase(Btk) in Three Korean X-linked gammaglobulinemia(XLA) Families

Jo EK, Song CH, Park JK, Lee JH, Kim DS

  • KMID: 2335560
  • J Korean Pediatr Soc.
  • 2002 Jan;45(1):44-54.
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...
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Hepatocellular Carcinoma Following Vertical Transmission of Hepatitis B Virus in a Child with X-linked Agammaglobulinemia

Oh JG, Kim BJ, Kook H, Woo YJ, Choi YY, Ma JS, Hwang TJ, Seo JJ

  • KMID: 2275126
  • Korean J Pediatr Gastroenterol Nutr.
  • 2000 Mar;3(1):105-109.
X-linked agammaglobulinemia (XLA) is a primary inherited B-cell immunodeficiency. The prevalence of neoplastic disease in patients with XLA is approximatedly 0.7%. The most frequent tumor is lymphoreticular malignancy. We report...
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Identification of a Novel Mutation of Bruton's Tyrosine Kinase(BTK)Gene in a X-linked Agammaglobulinemia(XLA) Family

Baek YJ, Lee JH, Kim JS, Song CH, Park JK, Kim HJ, Jo EK

  • KMID: 2104501
  • J Korean Pediatr Soc.
  • 2000 Dec;43(12):1599-1607.
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....
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A Case of X-linked Agammaglobulinemia with Delayed Growth

Kim MJ, Kim HY, Lee MD, Kim HS, Shin YG, Chung CH, Shin KC

  • KMID: 2331145
  • J Korean Soc Endocrinol.
  • 1999 Mar;14(1):153-159.
In 1980, the clinical syndrome of X-linked agammaglobulinemia and isolated growth hormone defieiency (XLA/IGHD) was first described by Fleisher. We report here 25-year old man with isolated growth hormone deficiency...
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A Case of X-linked Agammaglobulinemia

Jang SH, Kho WJ, Kim CH, Chung KH, Lee JH, Chung HS, Han SK

  • KMID: 2251566
  • Korean J Med.
  • 1997 Sep;53(3):426-430.
X-linked agammaglobulinemia is attributed to the genetic defect for Bruton's tyrosine kinase at Xq22 region and the developmental arrest of pre-B lymphocytes. The characteristics of the disease are as follows;...
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