Reversible monoclonal lymphadenopathy in autoimmune lymphoproliferative syndrome with functional FAS (CD95/APO-1) deficiency

American Journal of Surgical Pathology

Volumn 23, Issue 7, 1999, Pages 829-837

  Ströbel, Philipp ^b   Nanan, Ralf ^b   Gattenlöhner, Stefan ^b   Müller Deubert, Sigrid ^b   Müller Hermelink, Hans Konrad ^b   Kreth, Hans Wolfgang ^b   Marx, Alexander ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b NONE

Author keywords

ALPS I and II; Autoimmune lymphoproliferative syndrome; Histology; Lymph node; Monoclonal B cell expansion

Indexed keywords

APOPTOSIS; ARTICLE; AUTOIMMUNE DISEASE; CANCER GRADING; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE CLASSIFICATION; GENE MUTATION; HISTOLOGY; HUMAN; IMMUNOBLAST; LYMPHADENOPATHY; LYMPHOPROLIFERATIVE DISEASE; MALE; PATHOGENESIS; PRESCHOOL CHILD; PROTEIN EXPRESSION;

EID: 18744431215     PISSN: 01475185     EISSN: None     Source Type: Journal    
DOI: 10.1097/00000478-199907000-00012     Document Type: Article

References (47)

1. Barletta JM, Kingma DW, Ling Y, et al. Rapid in situ hybridization for the diagnosis of latent Epstein-Barr virus infection. Mol Cell Probes 1993;7:105-9.
2. Behrmann I, Walczak H, Krammer PH. Structure of the human APO-1 gene. Eur J Immunol 1994;24:3057-62.
3. Bettinardi A, Brugnoni D, Quirès-Roldan E, et al. Missense mutations in the fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. Blood 1997;89:902-9.
4. Burke AP, Anderson D, Mannan P, et al. Systemic lymphadenopathic histology in human immunodeficiency virus-1-seropositive drug addicts without apparent acquired immunodeficiency syndrome. Hum Pathol 1994;25:248-56.
5. McCarthy. Rapid method for distinguishing clonal from polyclonal B cell populations in surgical biopsy specimens. J Clin Pathol 1990;43:429-32.
6. Chadburn A, Cesarman E, Knowles DM. Molecular pathology of posttransplantation lymphoproliferative disorders. Semin Diagn Pathol 1997;14:15-26.
7. Chang Y, Cesarman E, Pessins MS, et al. Identification of herpes-virus-like DNA sequences in AIDS associated Kaposi's sarcoma. Science 1994;266:1865-8.
8. Cheng J, Liu C, Koopmann JW. Characterization of human Fas gene. Exon/intron organization and promoter region. J Immunol 1995;154:1239-45.
9. Chinnaiyan AM, O'Rourke K, Tewari M, et al. FADD, a novel death domain-containing protein, interacts with the death domain of Fas and initiates apoptosis. Cell 1995;81:505-12.
10. Cifone MG, Roncaioli P, De Maria R, et al. Multiple pathways originate at the Fas/APO-1 (CD95) receptor: sequential involvement of phosphatidylcholine-specific phospholipase C and acidic sphingomyelinase in the propagation of the apoptotic signal. EMBO J 1995;14:5859-68.
11. Cleary ML, Nalesnik MA, Shearer WT, et al. Clonal analysis of transplant-associated lymphoproliferations based on the structure of the genomic termini of the Epstein-Barr virus. Blood 1988;72: 349-52.
12. Cohen PL and Eisenberg RA. Lpr and gld: single gene models of systemic autoimmunity and lymphoproliferative disease. Ann Rev Immunol 1991;9:243-69.
13. Le Deist F, Emile JF, Rieux-Laucat F, et al. Clinical, immunological, and pathological consequences of Fas-deficient conditions. Lancet 1996;348:719-23.
14. Dianzani U, Bragardo M, Di Franco D, et al. Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation. Blood 1997;89:2871-9.
15. Drappa J, Vaishnaw AK, Sullivan KE, et al. Fas gene mutations in the canale-smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. N Engl J Med 1996;335: 1643-9.
16. Elenitoba-Johnson KS, Jaffe ES. Lymphoproliferative disorders associated with congenital immunodeficiencies. Semin Diagn Pathol 1997;14:35-47.
17. Fisher GH, Rosenberg FJ, Straus SE, et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 1995;5:936-46.
18. Fiucci G, Ruberti G. Detection of polymorphisms within the Fas cDNA gene sequence by GC-clamp denaturing gradient gel electrophoresis. Immunogenetics 1994;39:437-9.
19. Frizzera G. Atypical lymphoproliferative disorders. In: Knowles DM, ed. Neoplastic hematopathology. Baltimore: Williams & Wilkins, 1992;459-95.
20. Frizzera G, Peterson BA, Bayrd ED, Goldman A. A systemic lymphoproliferative disorder with morphologic features of Castleman's disease: clinical findings and clinicopathologic correlations in 15 patients. J Clin Oncol 1985;3:1202-16.
21. Hanson CA, Frizzera G, Patton DF, et al. Clonal rearrangement for immunoglobulin and T-cell receptor genes in systemic Castleman's disease. Association with Epstein-Barr virus. Am J Pathol 1988;131:84-91.
22. Harris NL, Ferry JA, Swerdlow SH. Posttransplant lymphoproliferative disorders: summary of society for hematopathology workshop. Semin Diagn Pathol 1997;14:8-14.
23. Itoh N, Nagata S. A novel protein domain required for apoptosis. J Biol Chem 1993;268:10932-7.
24. Laszewski MJ, Kemp JD, Goeken JA, et al. Clonal immunoglobulin gene rearrangement in nodular lymphoid hyperplasia of the gastrointestinal tract associated with common variable immunodeficiency. Am J Clin Pathol 1990;94:338-43.
25. Leithäuser F, Dhein J, Mechtersheimer G, et al. Constitutive and induced expression of APO-1, a new member of the nerve growth factor/tumor necrosis factor receptor superfamily, in normal and neoplastic cells. Lab Invest 1993;69:415-29.
26. Lenardo M. Fas and the art of lymphocyte maintenance. J Exp Med 1996;183:721-4.
27. Locker J, Nalesnik M. Molecular genetic analysis of lymphoid tumors arising after organ transplantation. Am J Pathol 1989;135: 977-87.
28. Los M, Van de Craen M, Penning L, et al. Requirement of an ICE/CED-3 protease for Fas/APO-1-mediated apoptosis. Nature 1995;375:81-3.
29. Lynch DH, Ramsdell F, Alderson MR. Fas and FasL in the homoiostatic regulation of immune responses. Immunol Today 1995; 16:569-74.
30. Nagata S, Golstein P. The Fas death factor. Science 1995;267: 1449-56.
31. Nagata S, Suda T. Fas and Fas ligand: lpr and gld manifestations. Immunol Today 1995;16:39-43.
32. Nicholson DW, Ambereen A, Thornberry NA, et al. Identification and inhibition of the ICE/CED-3 protease necessary for mammalian apoptosis. Nature 1995;376:37-43.
33. Oehm A, Behrmann I, Falk W, et al. Purification and molecular cloning of the APO-1 cell surface antigen, a member of the tumor necrosis factor/nerve growth factor receptor superfamily: sequence identity with the Fas antigen. J Biol Chem 1992;267:10709-15.
34. Puck JM, Sneller MC. ALPS: an autoimmune human lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Semin Immunol 1997;9:77-84.
35. Rieux-Laucat F, Le Deist F, Hivroz C, et al. Mutation in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 1995;268:1347-9.
36. Sambrook J, Fritsch EF, Maniatis T. Identification of bacterial colonies that contain recombinant plasmids. Molecular Cloning, 2nd ed. Cold Spring Harbor: Cold Spring Harbor Laboratory Press; 1989:85-110.
37. Sander CA, Medeiros LJ, Weiss LM, et al. Lymphoproliferative lesions in patients with common variable immunodeficiency syndrome. Am J Surg Pathol 1992;16:1170-82.
38. Sneller MC, Straus SE, Jaffe ES, et al. A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest 1992;90:334-41.
39. Sneller MC, Wang J, Dale JK, et al. Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood 1997;89: 1341-8.
40. Stanger BZ, Leder P, Lee T-H, et al. RIP: a novel protein containing a death domain that interacts with Fas/APO-1 (CD95) in yeast and causes cell death. Cell 1995;81:513-23.
41. Tartaglia L, Ayres TM, Wong GHW, et al. A novel domain within the 55 kd TNF receptor signals cell death. Cell 1993;74:845-53.
42. Tian Q, Taupin J-L, Elledge S, et al. Fas-activated Serine/ Threonine Kinase (FAST) phosphorylates TIA-1 during Fas-mediated apoptosis. J Exp Med 1995;182:865-74.
43. Trauth BC, Klas C, Peters AMJ, et al. Monoclonal antibody-mediated tumor regression by induction of apoptosis. Science 1989;245:301-5.
44. Wang L, Masayuki M, Bergeron L, et al. Ich-1, an Ice/ced-3-related gene, encodes both positive and negative regulators of programmed cell death. Cell 1994;78:739-50.
45. Watanabe-Fukunaga R, Brannan CI, Copeland NG, et al. Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis. Nature 1992;356:314-7.
46. Wood GS. The immunohistology of lymph nodes in HIV infection: a review. Prog AIDS Pathol 1990;2:25-32.
47. Yonehara S, Ishi A, Yonehara M. A cell-killing monoclonal antibody (anti-Fas) to a cell surface antigen co-downregulated with the receptor of tumor necrosis factor. J Exp Med 1989;169:1747-55.