- A Case of Wiskott-Aldrich Syndrome with 1316 G Deletion in Exon 10 on X-chromosome Treated with Allogeneic Cord Blood Transplantation
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Kwon DG, Lee KG, Jee YH, Chung HJ, Baatartsoget O, Choi KD, Park JE
- KMID: 2279920
- Clin Pediatr Hematol Oncol.
- 2007 Oct;14(2):207-211.
Wiskott-Aldrich syndrome, an X-linked immuno-deficiency disorder caused by mutations of Wiskott-Aldrich syndrome protein (WASP) gene, is characterized by thrombocytopenia, recurrent infections, and eczema. Most of the cases of Wiskott-Aldrich syndrome,... -
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- A Case of Septic Arthritis in Patient with Wiskott-Aldrich Syndrome
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Do JH
- KMID: 1526432
- J Korean Rheum Assoc.
- 2007 Jun;14(2):149-153.
- doi: 10.4078/jkra.2007.14.2.149
The Wiskott-Aldrich syndrome is a rare disease characterized by thrombocytopenia, recurrent eczema and a marked vulnerability to recurrent infection. Patients with Wiskott-Aldrich syndrome have frequent infections by bacteria which have... -
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- A Case of Wiskott-Aldrich Syndrome
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Lee BG, Chang SH, Cho SY, Hwang PH, Kim JS
- KMID: 2208424
- J Korean Pediatr Soc.
- 1994 Nov;37(11):1615-1619.
Wiskott-Aldrich Syndrome is an X-linked disorder characterized by recurrent infection, thrombocypenia and eczema. Various defects in cell-mediated immunity and deficient antibody reponse to carbohydrate antigens have been described. We experienced... -
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- A Case of Wiskott-Aldrich Syndrome Misdiagnosed as Chronic Idiopathic Thrombocytopenia
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Choi HK, Park CY, Sohn JH
- KMID: 1535340
- Korean J Pediatr Hematol Oncol.
- 1998 Oct;5(2):340-345.
Wiskott-Aldrich syndrome is a rare inheritable disease. Though there are many reported cases in the world, there are only 3 reported cases in Korea. We experienced a 7 years old... -
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- A case of Wiskott-Aldrich syndrome
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Kim DU, Han SH, Kang JH, Lee JS
- KMID: 2104060
- J Korean Pediatr Soc.
- 1993 Mar;36(3):439-446.
Wiskott-Aldrich syndrome is an X-linked combined immunodeficiency disorder characterized by severely decreased number of platelets which are small in size, eczema resembling atopic dermatitis and recurrent infection. The serum of... -
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- A Case of Wiskott-Aldrich Syndrome with Novel Mutation in Exon 2 of the WASP Gene
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Lee H, Park JI, Kim SY, Moon KH, Yi HK, Hwang PH
- KMID: 2278632
- Korean J Pediatr.
- 2005 May;48(5):551-556.
Wiskott-Aldrich syndrome(WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia with small platelet volume, eczema, and recurrent infections, and is also characterized by increased incidence of auto immune diseases and... -
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- A Familial Case of Wiskott-Aldrich Syndrome with a Hotspot Mutation in Exon 2 of the WAS Gene
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Park SK, Kim CS, Song DK, Kim JY, Choi IJ, Kim DK
- KMID: 1785760
- J Korean Med Sci.
- 2007 Dec;22(6):998-1001.
- doi: 10.3346/jkms.2007.22.6.998
The Wiskott-Aldrich syndrome (WAS) is a severe X-linked disorder characterized classically by thrombocytopenia, immunodeficiency, and eczema. The phenotype observed in this syndrome is caused by mutation in the WAS gene.... -
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- Unrelated Bone Marrow Transplantation with a Reduced Toxicity Myeloablative Conditioning Regimen in Wiskott-Aldrich Syndrome
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Kang HJ, Shin HY, Ko SH, Park JA, Kim EK, Rhim JW, Kim JG, Ahn HS
- KMID: 1786863
- J Korean Med Sci.
- 2008 Feb;23(1):146-148.
- doi: 10.3346/jkms.2008.23.1.146
Wiskott-Aldrich syndrome (WAS) is an X-linked congenital immune-deficiency syndrome, and bone marrow transplantation (BMT) has become a curative modality. However, the transplant with the alternative donor needed more intensive conditioning... -
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- A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
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Lee EK, Eem YJ, Chung NG, Kim MS, Jeong DC
- KMID: 2353173
- Korean J Pediatr.
- 2013 Jun;56(6):265-268.
Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in... -
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- Phenotypic and Genotypic Correction of WASP Gene Mutation in Wiskott-Aldrich Syndrome by Unrelated Cord Blood Stem Cell Transplantation
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Lee YH, Lim YJ, Shin SA, Song CH, Jo EK, Jung JA, Lee HB
- KMID: 1779216
- J Korean Med Sci.
- 2009 Aug;24(4):751-754.
- doi: 10.3346/jkms.2009.24.4.751
We present two cases of Wiskott-Aldrich syndrome (WAS), in which nonsense mutations in the WASP gene were corrected phenotypically as well as genotypically by unrelated cord blood stem cell transplantation... -
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- Diagnostic Approach of Wiskott-Aldrich Syndrome
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Hwang DJ, Yang JW, Kim SY, Yi HK, Lee DY, Hwang PH
- KMID: 2037353
- Korean J Pediatr.
- 2004 Jul;47(7):726-734.
OBJECTIVE: A probable diagnosis of Wiskott-Aldrich syndrome(WAS) should be considered in any boy presenting with unusual bleeding, congenital thrombocytopenia and small platelets. The definitive diagnosis of WAS is usually made... -
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- Outcome of Hematopoietic Stem Cell Transplantation in Wiskott-Aldrich Syndrome
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Kim BK, Hong KT, Kang HJ, Choi JY, An HY, Shin HY
- KMID: 2435407
- Clin Pediatr Hematol Oncol.
- 2018 Oct;25(2):149-153.
- doi: 10.15264/cpho.2018.25.2.149
BACKGROUND: Wiskott-Aldrich syndrome (WAS) is a very rare disease and patients who do not receive timely treatment suffer from bleeding, infection, and malignancy. Hematopoietic stem cell transplantation (HSCT) has been... -
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- Mutation Analysis in X-linked Recessive Congenital Immunodeficiency Syndromes
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Baek HJ, Choi SH, Sohn KR, Kook H, Kim SJ, Song ES, Han DK, Hwang TJ
- KMID: 2172339
- Chonnam Med J.
- 2005 Apr;41(1):48-61.
In patients and their families who had relevant clinical findings and compatible immunologic data suggestive of X-linked congenital immunodeficiency syndromes, the authors tried to identify the genetic abnormalities employing the... -
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- Prevalence of Primary Immunodeficiency in Korea
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Rhim JW, Kim KH, Kim DS, Kim BS, Kim JS, Kim CH, Kim HM, Park HJ, Pai KS, Son BK, Shin KS, Oh MY, Woo YJ, Yoo Y, Lee KS, Lee KY, Lee CG, Lee JS, Chung EH, Choi EH, Hahn YS, Park HY, Kim JG
- KMID: 2157925
- J Korean Med Sci.
- 2012 Jul;27(7):788-793.
- doi: 10.3346/jkms.2012.27.7.788
This study represents the first epidemiological study based on the national registry of primary immunodeficiencies (PID) in Korea. Patient data were collected from 23 major hospitals. A total of 152... -
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