An inframe perforin gene deletion in familial hemophagocytic lymphohistiocytosis is associated with perforin expression

American Journal of Hematology

Volumn 78, Issue 1, 2005, Pages 59-63

  Muralitharan, Shanmugakonar ^a   Al Lamki, Zakia ^a   Dennison, David ^a   Christie, Brian Sidney ^a   Wali, Yasser A ^a   Zachariah, Mathew ^a   Romana, Marc ^b   Bayoumi, Riad ^a   Krishnamoorthy, Rajagopal ^b,c  

^a SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

^b INSERM   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

FHL; Inframe deletion; NK cells; Perforin; T cells

Indexed keywords

CD3 ANTIGEN; CD56 ANTIGEN; CD8 ANTIGEN; COMPLEMENT MEMBRANE ATTACK COMPLEX; PERFORIN;

APOPTOSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; CODON; DISEASE COURSE; GENE DELETION; GENE SEQUENCE; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HOMOZYGOSITY; HUMAN; LYMPHOCYTIC INFILTRATION; MACROPHAGE; NATURAL KILLER CELL; NUCLEOTIDE SEQUENCE; OMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SYMPTOM; T LYMPHOCYTE;

AMINO ACID SEQUENCE; BASE SEQUENCE; COMPLEMENT MEMBRANE ATTACK COMPLEX; DNA; FLOW CYTOMETRY; GENE DELETION; HISTIOCYTOSIS, NON-LANGERHANS-CELL; HOMOZYGOTE; HUMANS; INFANT; INTRACELLULAR MEMBRANES; MALE; MEMBRANE GLYCOPROTEINS; PEDIGREE; PORE FORMING CYTOTOXIC PROTEINS; PROTEIN STRUCTURE, TERTIARY; READING FRAMES; T-LYMPHOCYTES, CYTOTOXIC; VARIATION (GENETICS);

EID: 11144322228     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajh.20256     Document Type: Article

References (21)

1. Favara BE. Hemophagocytic lymphohistiocytosis: a hemophagocytic syndrome. Semin Diagn Pathol 1992;9:63-73.
2. Dufourcq-Lagelouse R, Pastural E, Barrat F, et al. Genetic basis of hemophagocytic lymphohistiocytosis syndrome. Int J Mol Med 1999a;4:127-133.
3. Fischer A, Cerf-Bensussan N, Blanche S, et al. Allogeneic bone marrow transplantation for erythrophagocytic lymphohistiocytosis. J Pediatr 1986;108:267-270.
4. Jababo N, Degraeffmeeder ER, Cavazzana-Calvo M, et al. Treatment of familial hemophagocytic lymphohistiocytosis with bone marrow transplantation from HLA non-identical donors. Blood 1997;90:4743-4748.
5. Ohadi M, Lalloz M, Sham P, et al. Localization of a gene for Familial Hemophagocytic Lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping. Am J Hum Genet 1999;64:165-171.
6. Dufourcq-Lagelouse R, Jabado N, Le Deist F, et al. Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity. Am J Hum Genet 1999b;64:172-179.
7. Graham GE, Graham LM, Bridge PJ, et al. Further evidence for genetic heterogencity in familial hemophagocytic lymphohistiocytosis (FHLH). Pediatr Res 2000;48:227-232.
8. Ericson K, Fadeel B, Nilsson-Ardnor S, et al. Spectrum of perform gene mutations in familial hemophagocytic lymphohistiocytosis. Am J Hum Genet 2001;68:590-597.
9. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 1999;286:1957-1959.
10. Clementi R, Stadt U, Savoldi G, et al. Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. J Med Genet 2001;38:634-646.
11. Suga N, Takada H, Nomura A, et al. Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan. Br J Haematol 2002;116:346-349.
12. Kogawa K, Lee SM, Villanueva J, Manner D, Sumegi J, Filipovich AH. Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members. Blood 2002;99:61-66.
13. Feldmann J, Le Deist F, Ouachee-Chardin M, et al. Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis. Br J Haematol 2002;117:965-972.
14. McCormick J, Flower DR, Strobel S, Wallace DL, Beverley PC, Tchilian EZ. Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing. Am J Med Genet 2003;117A:255-260.
15. Molleran Lee S, Villanueva J, Sumegi J, et al. Characterization of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with hemophagocytic lymphohistiocytosis. J Med Genet 2004;41:137-144.
16. Edwards KM, Kam CM, Powers JC, Trapani JA. The human cytotoxic T cell granule serine protease granzyme H has chymotrypsin-like (chymase) activity and is taken up in to cytoplasmic vesicle reminiscent of granzyme B-containing endosomes. J Biol Chem 1999;274:30468-30473.
17. Arico M, Allen M, Brusa S, et al. Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression. Br J Haematol 2002;119:180-188.
18. Henter JI, Elinder G, Ost A. Diagnostic guidelines for hemophagocytic lymphohistiocytosis. Semin Oncol 1991;18(1):29-33.
19. Lichtenheld MG, Olsen KJ, Lu P, et al. Structure and function of human perforin. Nature 1988;335:448-451.
20. Uellner R, Zvelebil MJ, Hopkins J, et al. Perforin is activated by a proteolytic cleavage during biosynthesis which reveals a phospholipid-binding C2 domain. EMBO J 1997;16:7287-7296.
21. Arico M, Janka G, Fischer A, et al. Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. FHL Study group of the Histiocyte Society. Leukemia 1996;2:197-203.