Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

Nature Genetics

Volumn 34, Issue 1, 2003, Pages 70-74

  Hernandez, Paolo A ^a   Gorlin, Robert J ^b   Lukens, John N ^c   Taniuchi, Shoichiro ^d   Bohinjec, Joše ^e   Francois, Fleur ^a   Klotman, Mary E ^a   Diaz, George A ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

^c VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d KANSAI MEDICAL UNIVERSITY   (Japan)

^e UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ION; CHEMOKINE RECEPTOR; CHEMOKINE RECEPTOR CXCR4; STROMAL CELL DERIVED FACTOR 1;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE MARROW BIOPSY; BONE MARROW CELL; CALCIUM TRANSPORT; CELLULAR IMMUNITY; CHROMOSOME 2Q; CONTROLLED STUDY; CYTOPLASM; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; FEMALE; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOGAMMAGLOBULINEMIA; IMMUNE DEFICIENCY; LYMPHOBLASTOID CELL; MALE; NEUTROPENIA; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DOMAIN; RECEPTOR GENE; SIGNAL TRANSDUCTION; VERRUCA VULGARIS; WART VIRUS; WHIM SYNDROME;

AGAMMAGLOBULINEMIA; B-LYMPHOCYTES; BASE SEQUENCE; CALCIUM SIGNALING; CHROMOSOMES, HUMAN, PAIR 2; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; LINKAGE (GENETICS); MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; NEUTROPENIA; PEDIGREE; RECEPTORS, CXCR4; WARTS;

HUMAN PAPILLOMAVIRUS; HUMAN PAPILLOMAVIRUS TYPES; PAPILLOMAVIRUS; VERRUCA;

EID: 0037656291     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1149     Document Type: Article

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