A novel splice-site mutation in the common gamma chain (gammac) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype.

Human mutation

Volumn 23, Issue 5, 2004, Pages 522-523

  Ginn, Samantha L ^a   Smyth, Christine ^a   Wong, Melanie ^a   Bennetts, Bruce ^a   Rowe, Peter B ^a   Alexander, Ian E ^a  

^a CHILDREN'S MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

IL2RG PROTEIN, HUMAN; INTERLEUKIN 2 RECEPTOR; INTERLEUKIN 2 RECEPTOR GAMMA; INTERLEUKIN 7 RECEPTOR;

ARTICLE; BIOSYNTHESIS; COMBINED IMMUNODEFICIENCY; CYTOLOGY; GENETICS; HUMAN; IMMUNOLOGY; INFANT; LYMPHOCYTE COUNT; MOLECULAR GENETICS; MUTATION; NATURAL KILLER CELL; NUCLEOTIDE SEQUENCE; PHENOTYPE; RNA SPLICING; X CHROMOSOME LINKED DISORDER;

BASE SEQUENCE; GENETIC DISEASES, X-LINKED; HUMANS; INFANT; INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT; KILLER CELLS, NATURAL; LYMPHOCYTE COUNT; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; RECEPTORS, INTERLEUKIN-2; RECEPTORS, INTERLEUKIN-7; RNA SPLICE SITES; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 4444332599     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9235     Document Type: Article

References (0)