WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4.

Liu, Qian; Chen, Haoqian; Ojode, Teresa; Gao, Xiangxi; Anaya-O'Brien, Sandra; Turner, Nicholas A; Ulrick, Jean; DeCastro, Rosamma; Kelly, Corin; Cardones, Adela R; Gold, Stuart H; Hwang, Eugene I; Wechsler, Daniel S; Malech, Harry L; Murphy, Philip M; McDermott, David H

Liu, Qian; Chen, Haoqian; Ojode, Teresa; Gao, Xiangxi; Anaya-O'Brien, Sandra; Turner, Nicholas A; Ulrick, Jean; DeCastro, Rosamma; Kelly, Corin; Cardones, Adela R; Gold, Stuart H; Hwang, Eugene I; Wechsler, Daniel S; Malech, Harry L; Murphy, Philip M; McDermott, David H.

Affiliation

Liu Q; Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

Blood ; 120(1): 181-9, 2012 Jul 05.

Article in En | MEDLINE | ID: mdl-22596258

Subject(s)

Amino Acid Substitution/genetics; Immunologic Deficiency Syndromes/genetics; Receptors, CXCR4/chemistry; Receptors, CXCR4/genetics; Warts/genetics; Amino Acid Sequence; Child; Child, Preschool; Family Health; Female; Humans; K562 Cells; Leukopenia/genetics; Male; Molecular Sequence Data; Pedigree; Phenotype; Primary Immunodeficiency Diseases; Protein Structure, Tertiary/genetics

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google

Full text: 1 Database: MEDLINE Main subject: Warts / Receptors, CXCR4 / Amino Acid Substitution / Immunologic Deficiency Syndromes Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Blood Year: 2012 Type: Article Affiliation country: United States

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google