A novel mutant γc chain from a patient with typical phenotype of X- linked severe combined immunodeficiency (SCID) has partial signalling function for mediating IL2 and IL-4 receptor action

Clinical and Experimental Immunology

Volumn 115, Issue 2, 1999, Pages 356-361

  Kumaki, Satoru ^d   Ochs, H D ^a   Kuropatwinski, K K ^b   Konno, T ^e   Timour, M S ^c   Cosman, D ^c   Baumann, H ^b  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b ROSWELL PARK CANCER INSTITUTE   (United States)

^c AMGEN INC   (United States)

^d TOHOKU UNIVERSITY   (Japan)

^e NONE

Author keywords

c chain; Jak3 phenotype; X SCID

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; COMBINED IMMUNODEFICIENCY; DNA SEQUENCE; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; INFANT; MALE; NATURAL KILLER CELL; PATHOGENESIS; PRIORITY JOURNAL; T LYMPHOCYTE; X CHROMOSOME LINKED DISORDER; DNA RESPONSIVE ELEMENT; GENETIC LINKAGE; GENETICS; METABOLISM; MUTATION; PHENOTYPE; SIGNAL TRANSDUCTION; X CHROMOSOME;

COLONY STIMULATING FACTOR RECEPTOR; INTERLEUKIN 2 RECEPTOR; INTERLEUKIN 4 RECEPTOR; INTERLEUKIN RECEPTOR; JAK3 PROTEIN, HUMAN; JANUS KINASE 3; PROTEIN TYROSINE KINASE;

HUMANS; INFANT; JANUS KINASE 3; LINKAGE (GENETICS); MALE; MUTATION; PHENOTYPE; PROTEIN-TYROSINE KINASES; RECEPTORS, COLONY-STIMULATING FACTOR; RECEPTORS, INTERLEUKIN; RECEPTORS, INTERLEUKIN-2; RECEPTORS, INTERLEUKIN-4; RESPONSE ELEMENTS; SEVERE COMBINED IMMUNODEFICIENCY; SIGNAL TRANSDUCTION; X CHROMOSOME;

EID: 0033073245     PISSN: 00099104     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2249.1999.00792.x     Document Type: Article

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