WHIM Syndrome With a Novel CXCR4 Variant in a Korean Child

Ann Lab Med. 2017 Sep;37(5):446-449. doi: 10.3343/alm.2017.37.5.446.

Authors

Dong Woo Shin¹, Si Nae Park², Sung Min Kim², Kyongok Im², Jung Ah Kim¹, Kyung Taek Hong^{2

3}, Jung Yoon Choi^{2

3}, Che Ry Hong^{2

3}, Kyung Duk Park^{2

3}, Hee Young Shin^{2

3}, Hyoung Jin Kang^{2

3}, Hyun Kyung Kim^{1

2}, Dong Soon Lee^{1

4}

Affiliations

¹ Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
² Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.
³ Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
⁴ Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea. soonlee@snu.ac.kr.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Agammaglobulinemia / etiology
Bone Marrow / pathology
Gene Deletion
Humans
Immunologic Deficiency Syndromes / diagnosis*
Immunologic Deficiency Syndromes / genetics
Infant
Male
Neutropenia / etiology
Primary Immunodeficiency Diseases
Receptors, CXCR4 / genetics*
Warts / diagnosis*
Warts / genetics

Substances

CXCR4 protein, human
Receptors, CXCR4

Supplementary concepts

WHIM syndrome