Can mutations in ELA2, neutrophil elastase expression or differential cell toxicity explain sulphasalazine-induced agranulocytosis?

BMC Blood Disorders

Volumn 4, Issue , 2004, Pages

  Jacobson, Annica ^a   Melhus, Håkan ^a   Wadelius, Mia ^a  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; LEUKOCYTE ELASTASE; SALAZOSULFAPYRIDINE;

ADOLESCENT; ADULT; AGED; AGRANULOCYTOSIS; ARTHRITIS; ARTICLE; CELL STRAIN HL 60; CELL STRAIN U937; CELL SURVIVAL; CONCENTRATION RESPONSE; CONTROLLED STUDY; CYTOTOXICITY; DRUG EXPOSURE; DRUG INDUCED DISEASE; DRUG SENSITIVITY; ENTERITIS; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IN VITRO STUDY; LYMPHOCYTE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PROMYELOCYTE; PROTEIN EXPRESSION; SCHOOL CHILD; STRAIN DIFFERENCE;

EID: 13644261753     PISSN: 14712326     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2326-4-5     Document Type: Article

References (15)

1. Keisu M, Ekman E, Wiholm BE: Comparing risk estimates of sulphonamide-induced agranulocytosis from the Swedish Drug Monitoring System and a case-control study. Eur J Clin Pharmacol 1992, 43:211-214.
2. Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC: Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. Blood 2001, 98:2645-2650.
3. Wadelius M, Stjernberg E, Wiholm BE, Rane A: Polymorphisms of NAT2 in relation to sulphasalazine-induced agranulocytosis. Pharmacogenetics 2000, 10:35-41.
4. Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, Boxer LA, Kannourakis G, Zeidler C, Welte K, Benson KF, Horwitz M: Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000, 96:2317-2322.
5. Larsson R, Kristensen J, Sandberg C, Nygren P: Laboratory determination of chemotherapeutic drug resistance in tumor cells from patients with leukemia, using a fluorometric microculture cytotoxicity assay (FMCA). Int J Cancer 1992, 50:177-185.
6. Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC: Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet 1999, 23:433-436.
7. Palmblad J, Papadaki HA, Eliopoulos G: Acute and chronic neutropenias. What is new? J Intern Med 2001, 250:476-491.
8. van Staa TP, Boulton F, Cooper C, Hagenbeek A, Inskip H, Leufkens HG: Neutropenia and agranulocytosis in England and Wales: incidence and risk factors. Am J Hematol 2003, 72:248-254.
9. Zeidler C, Welte K: Kostmann syndrome and severe congenital neutropenia. Semin Hematol 2002, 39:82-88.
10. Li FQ, Horwitz M: Characterization of mutant neutrophil elastase in severe congenital neutropenia. J Biol Chem 2001, 276:14230-14241.
11. El Ouriaghli F, Fujiwara H, Melenhorst JJ, Sconocchia G, Hensel N, Barrett AJ: Neutrophil elastase enzymatically antagonizes the in vitro action of G-CSF: implications for the regulation of granulopoiesis. Blood 2003, 101:1752-1758.
12. Benson KF, Li FQ, Person RE, Albani D, Duan Z, Wechsler J, Meade-White K, Williams K, Acland GM, Niemeyer G, Lothrop CD, Horwitz M: Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat Genet 2003, 35:90-96.
13. Horwitz M, Benson KF, Duan Z, Li FQ, Person RE: Hereditary neutropenia: dogs explain human neutrophil elastase mutations. Trends Mol Med 2004, 10:163-170.
14. Person RE, Li FQ, Duan Z, Benson KF, Wechsler J, Papadaki HA, Eliopoulos G, Kaufman C, Bertolone SJ, Nakamoto B, Papayannopoulou T, Grimes HL, Horwitz M: Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet 2003, 34:308-312.
15. Rieder J, Schwartz DE, Fernex M, Bergan T, Brodwall EK, Blumberg A, Cottier P, Scheitlin W: Pharmacokinetics of the antibacterial combination sulfamethoxazole plus trimethoprim in patients with normal or impaired kidney function. Antibiot Chemother 1974, 18:148-198.