A novel JAK3 mutation in a Japanese patient with severe combined immunodeficiency

Pediatrics International

Volumn 47, Issue 5, 2005, Pages 575-578

  Uchiyama, Toru ^a   Kumaki, Satoru ^a   Fujiwara, Mitsuhiro ^b   Nishida, Yoshinobu ^b   Hakozaki, Ikuko ^a   Imai, Kaori ^a   Wei, D U ^a   Yoshinari, Miyako ^a   Sasahara, Yoji ^a   Tsuchiya, Shigeru ^a  

^a TOHOKU UNIVERSITY   (Japan)

^b KURASHIKI CENTRAL HOSPITAL   (Japan)

Author keywords

JAK3 japanese; Mutation; Severe combined immunodeficiency

Indexed keywords

JANUS KINASE 3;

ANAMNESIS; ARTICLE; BONE MARROW TRANSPLANTATION; CASE REPORT; COMBINED IMMUNODEFICIENCY; DNA DETERMINATION; FEMALE; GENE MUTATION; GRAFT VERSUS HOST REACTION; HUMAN; HUMORAL IMMUNITY; IMMUNOPRECIPITATION; INFANT; INTERSTITIAL PNEUMONIA; JAPAN; LIVER DYSFUNCTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYMPTOMATOLOGY; WESTERN BLOTTING;

FEMALE; HUMANS; INFANT; JANUS KINASE 3; JAPAN; MUTATION, MISSENSE; PROTEIN-TYROSINE KINASES; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 29144485465     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1442-200x.2005.02103.x     Document Type: Article

References (10)

1. Fischer A. Severe combined immunodeficiencies (SCID). Clin. Exp. Immunol. 2000; 122: 143-9.
2. Macchi P, Villa A, Giliani S, Sacco MG et al. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature 1995; 377: 65-8.
3. Russell SM, Tayebi N, Nakajima H et al. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science 1995; 270: 797-800.
4. Notarangelo LD, Mella P, Jones A et al. Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency. Hum. Mutat. 2001; 18: 255-63.
5. Roberts JL, Lengi A, Brown SM et al. Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. Blood 2004; 103: 2009-18.
6. Kumaki S, Ishii N, Minegishi M et al. Functional role of IL-4 and IL-7 in the development of X-linked severe combined immunodeficiency. Blood 1999; 93: 607-12.
7. Schumacher RF, Mella P, Badolato R et al. Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. Hum. Genet. 2000; 106: 73-9.
8. Kumaki S, Ishii N, Minegishi M et al. Characterization of the γc chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID). Hum. Genet. 2000; 107: 406-8.
9. O'Shea JJ. Jaks, STATs cytokine signal transduction, and immunoregulation: are we there yet? Immunity 1997; 7: 1-11.
10. Chen M, Cheng A, Candotti F et al. Complex effects of naturally occurring mutations in the JAK3 pseudokinase domain: evidence for interactions between the kinase and pseudokinase domains. Mol. Cell. Biol. 2000; 20: 947-56.