WHIM Syndrome With a Novel CXCR4 Variant in a Korean Child
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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.
Abstract
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.
참고문헌 (10)
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