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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 446 - 449 (4page)
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Dear Editor, Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare, autosomal dominant, primary immunodeficiency disorder [1], with only 65 cases reported worldwide [2]. This disorder is caused by a gain-of-function mutation in CXCR4, which, along with its ligand CXCL12 (stromal cell-derived factor 1 [SDF-1]), plays a role in retention of mature neutrophils in the bone marrow (BM) [3]. Here we describe a Korean child with WHIM syndrome who had a novel CXCR4 mutation. To the best of our knowledge, this is the first report of WHIM syndrome in Korea.
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참고문헌 (10)
참고문헌 신청
Ana Rath / / Prevalence of rare diseases: Bibliographic data, Orphanet Report Series, Rare Diseases collection, November 2016, Number 1 : Diseases listed in alphabetical order
Balabanian K / 2005 / WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12 / Blood 105 : 2449 ~ 2457
Beaussant Cohen S / 2012 / Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry / Orphanet J Rare Dis 7 :
Bernhagen J / 2007 / MIF is a noncognate ligand of CXC chemokine receptors in inflammatory and atherogenic cell recruitment / Nat Med 13 : 587 ~ 596
Donadieu J / 2011 / Congenital neutropenia: diagnosis, molecular bases and patient management / Orphanet J Rare Dis 6 : 26 ~
Balabanian K / 2005 / WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12 / Blood 105 : 2449 ~ 2457
Beaussant Cohen S / 2012 / Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry / Orphanet J Rare Dis 7 :
Bernhagen J / 2007 / MIF is a noncognate ligand of CXC chemokine receptors in inflammatory and atherogenic cell recruitment / Nat Med 13 : 587 ~ 596
Donadieu J / 2011 / Congenital neutropenia: diagnosis, molecular bases and patient management / Orphanet J Rare Dis 6 : 26 ~
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