Somatic mutations - Not just for cancer anymore

New England Journal of Medicine

Volumn 351, Issue 14, 2004, Pages 1388-1390

  Puck, Jennifer M ^a   Straus, Stephen E ^b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE 10; CASPASE 8; CD4 ANTIGEN; CD8 ANTIGEN; FAS ANTIGEN; FAS LIGAND; T LYMPHOCYTE RECEPTOR; TUMOR NECROSIS FACTOR RECEPTOR; AUTOANTIBODY;

APOPTOSIS; AUTOIMMUNE DISEASE; CELL GROWTH; CELL LINEAGE; CELL SURVIVAL; GENETIC DISORDER; GERM LINE; HEMATOPOIETIC CELL; HOMOZYGOSITY; HUMAN; LYMPHOPROLIFERATIVE DISEASE; ONCOLOGY; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVIEW; SOMATIC MUTATION; GENETICS; IMMUNOLOGY; MUTATION; NOTE; PHYSIOLOGY; T LYMPHOCYTE;

ANTIGENS, CD95; AUTOANTIBODIES; AUTOIMMUNE DISEASES; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; LYMPHOPROLIFERATIVE DISORDERS; MUTATION; T-LYMPHOCYTES;

EID: 4644298618     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMp048116     Document Type: Review

References (5)

1. Schwartz RS. Black mornings, yellow sunsets - a day with paroxysmal nocturnal hemoglobinuria. N Engl J Med 2004;350: 537-8.
2. Sneller MC, Straus SE, Jaffe ES, et al. A novel lymphoproliferative/ autoimmune syndrome resembling murine Ipr/gld disease. J Clin Invest 1992;90:334-41.
3. Rieux-Laucat F, Le Deist F, Hivroz C, et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 1995;268:1347-9.
4. Fisher GH, Rosenberg FJ, Straus SE, et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 1995;81:935-46.
5. Straus SE, Jaffe ES, Puck JM, et al. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood 2001;98:194-200.