Causes and consequences of the autoimmune lymphoproliferative syndrome

Hematology

Volumn 11, Issue 1, 2006, Pages 15-23

  Rao, V Koneti ^a   Straus, Stephen E ^a  

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

Author keywords

AIHA; AIN; Apoptosis; Autoimmune cytopenias; ITP; Lymphoproliferation; Splenomegaly

Indexed keywords

FANSIDAR; FAS ANTIGEN; FLUORODEOXYGLUCOSE F 18; GRANULOCYTE COLONY STIMULATING FACTOR; IMMUNOGLOBULIN G; METHYLPREDNISOLONE; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; PENICILLIN V; PREDNISOLONE; QUINOLONE DERIVATIVE; RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR; RITUXIMAB; VINCRISTINE;

ADOLESCENT; ALLOGENIC BONE MARROW TRANSPLANTATION; ANEMIA; ANTIBIOTIC PROPHYLAXIS; APOPTOSIS; ARTICLE; ASPLENIA; AUTOIMMUNE LYMPHOPROLIFERATIVE DISEASE; AUTOIMMUNITY; CHILD; CHILDHOOD DISEASE; CLINICAL FEATURE; CYTOPENIA; DISEASE SEVERITY; DISEASE SURVEILLANCE; DRUG DOSE REDUCTION; DRUG MEGADOSE; DRUG PULSE THERAPY; ERYTHROCYTE TRANSFUSION; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC RISK; HODGKIN DISEASE; HOMOZYGOSITY; HUMAN; HYPERSPLENISM; IMMUNOMODULATION; IMMUNOSUPPRESSIVE TREATMENT; INFANT; LOW DRUG DOSE; LYMPHADENOPATHY; LYMPHOCYTE PROLIFERATION; LYMPHOPROLIFERATIVE DISEASE; MAJOR CLINICAL STUDY; MALE; MORBIDITY; MORTALITY; MUTATIONAL ANALYSIS; NEUTROPENIA; NONHODGKIN LYMPHOMA; ONSET AGE; PATIENT EDUCATION; PNEUMOCYSTOSIS; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; RISK ASSESSMENT; SPLENECTOMY; STREPTOCOCCUS INFECTION;

ADULT; ANTIGENS, CD95; APOPTOSIS; AUTOIMMUNE DISEASES; CHILD; CHILD, PRESCHOOL; FEMALE; HODGKIN DISEASE; HUMANS; LYMPHOMA, NON-HODGKIN; MALE; MUTATION; NATIONAL INSTITUTES OF HEALTH (U.S.); PROTEIN STRUCTURE, TERTIARY; UNITED STATES;

EID: 33644821878     PISSN: 10245332     EISSN: 16078454     Source Type: Journal    
DOI: 10.1080/10245330500329094     Document Type: Article

References (50)

1. Sneller, MC and Wang, J and Dale, JK and Strober, W and Middelton, LA and Choi, Y and (1997) Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis Blood, 89, pp. 1341 - 1348.
2. Straus, SE and Sneller, M and Lenardo, MJ and Puck, JM and Strober, W. (1999) An inherited disorder of lymphocyte apoptosis: The autoimmune lymphoproliferative syndrome Ann Intern Med, 130, pp. 591 - 601.
3. Rioux, JD and Abbas, AK. (2005) Paths to understanding the genetic basis of autoimmune disease Nature, 435(7042), pp. 584 - 589. Jun 2
4. Yonehara, S and Ishii, A and Yonehara, M. (1989) A cell-killing monoclonal antibody (anti-Fas) to a cell surface antigen co-downregulated with the receptor of tumor necrosis factor J Exp Med, 169(5), pp. 1747 - 1756.
5. Lenardo, MJ. (1997) Introduction: The molecular regulation of lymphocyte apoptosis Sem in Immunol, 9, pp. 1 - 5.
6. Debatin, K and Stahne, K and Fulda, S and (2003) Apoptosis in hematological disorders Sem in Cancer Biol, pp. 149 - 158.
7. Siegel, RM and Muppidi, JR and Sarker, M and Lobito, A and Jen, M and Martin, D and Straus, SE and Lenardo, MJ. (2004) SPOTS: Signaling protein oligomeric transduction structures are early mediators of death receptor-induced apoptosis at the plasma membrane J Cell Biol, 167, pp. 735 - 744.
8. Watanabe-Fukunaga, R and Brannan, CI and Copeland, NG and Jenkins, NA and Nagata, S:. (1992) Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis Nature, 356, pp. 314 - 317.
9. Cohen, PL and Eisenberg, RA:. (1991) Lpr and gld: Single gene models of systemic autoimmunity and lymphoproliferative disease Ann Rev Immunol, 9, pp. 243 - 269.
10. Sneller, MC and Straus, SE and Jaffe, ES and Jaffe, JS and Fleisher, TA and Stetler-Stevenson, M and (1992) A novel lymphoproliferative/ autoimmune syndrome resembling murine lpr/gld disease J Clin Invest, 90, pp. 334 - 341.
11. Fisher, GH and Rosenberg, FJ and Straus, SE and Dale, JK and Middleton, LA and Lin, AY and (1995) Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome Cell, 81, pp. 935 - 946.
12. Rieux-Laucat, F and Blachere, S and Danielan, S and De Villartay, JP and Oleastro, M and Solary, E and Bader-Meunier, B and Arkwright, P and Pondare, C and Bernaudin, F and Chapel, H and Nielsen, S and Berrah, M and Fischer, A and Le Deist, F. (1999) Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations Blood, 94, pp. 2575 - 2582.
13. Canale, VC and Smith, CH. (1967) Chronic lymphadenopathy simulating malignant lymphoma J Pediatr, 70, pp. 891 - 899.
14. Wang, J and Zheng, L and Lobito, A and Chan, FK and Dale, J and Sneller, M and (1999) Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II Cell, 98, pp. 47 - 58.
15. Chun, HJ and Zheng, L and Ahmad, M and Wang, J and Speirs, CK and Siegel, RM and Dale, JK and Puck, J and Davis, J and Hall, CG and Skoda-Smith, S and Atkinson, TP and Straus, SE and Lenardo, MJ. (2002) Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency Nature, 419, pp. 395 - 399.
16. van der Werff ten Bosch, JE and Otten, J and Thielemans, K. (2001) Autoimmune lymphoproliferative syndrome type III: An indefinite disorder Leuk lymphoma, 41, pp. 55 - 65.
17. Puck, JM and Straus, SE. (2004) Somatic mutations - Not just for cancer anymore (Perspective) NEJM, 351, pp. 1388 - 1390.
18. Holzelova, E and Vonarbourg, C and Stolzenberg, MC and (2004) Autoimmune lymphoproliferative syndrome with somatic Fas mutations NEJM, 351, pp. 1409 - 14194.
19. Sneller, MC and Dale, JK and Straus, SE. (2003) Autoimmune lymphoproliferative syndrome Curr Opin Rheumatol, 15, pp. 417 - 421.
20. Avila, NA and Dwyer, AJ and Dale, JK and Lopatin, UA and Sneller, MC and Jaffe, ES and (1999) Autoimmune lymphoproliferative syndrome: A syndrome associated with inherited genetic defects that impair lymphocytic apoptosis - CT and US features Radiology, 212, pp. 257 - 263.
21. Teachey, DT and Manno, CS and Axsom, KM and Andrews, T and Choi, JK and Greenbaum, BH and McMann, JM and Sullivan, KE and Travis, SF and Grupp, SA. (2005) Unmasking Evans syndrome: T cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS) Blood, 105, pp. 2443 - 2448.
22. Maric, I and Pittaluga, S and Dale, JK and Niemela, JE and Delsol, G and Diment, J and Rosai, J and Raffeld, M and Puck, JM and Straus, SE and Jaffe, E. (2005) Histologic Features of Sinus Histiocytosis With Massive Lymphadenopathy in Patients With Autoimmune Lymphoproliferative Syndrome Am J Surg Pathol, 29(7), pp. 903 - 911. Jul
23. Bleesing, JJ and Brown, MR and Straus, SE and Dale, JK and Siegel, RM and Johnson, M and Lenardo, MJ and Puck, JM and Fleisher, TA. (2001) Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome Blood, 98, pp. 2466 - 2473.
24. Lim, MS and Straus, SE and Dale, JK and Fleisher, TA and Stetler-Stevenson, M and Strober, W and (1998) Pathological findings in human autoimmune lymphoproliferative syndrome Am J Pathol, 153, pp. 1541 - 1550.
25. Fuss, IJ and Strober, W and Dale, JK and Fritz, S and Pearlstein, GR and Puck, JM and (1997) Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity J Immunol, 158, pp. 1912 - 1918.
26. Stroncek, DF and Carter, LB and Procter, JL and Dale, JK and Straus, SE. (2001) RBC autoantibodies in autoimmune lymphoproliferative syndrome Transfusion, 41, pp. 18 - 23.
27. Kwon, SW and Procter, J and Dale, JK and Straus, SE and Stroncek, DF. (2003) Neutrophil and platelet antibodies in autoimmune lymphoproliferative syndrome Vox Sang, 85, pp. 307 - 312.
28. Fang, BS and Sneller, MC and Straus, SE and Frenkel, L and Dale, JK and Rick, ME. (2000) Report of a factor VIII inhibitor in a patient with autoimmune lymphoproliferative syndrome Am J Hematol, 64, pp. 214 - 217.
29. Aspinall, AI and Pinto, A and Auer, IA and Bridges, P and Luider, J and Dimnik, L and (1999) Identification of new Fas mutations in a patient with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia Blood Cells Mol Dis, 25, pp. 227 - 238.
30. Bader-Munier, B and Rieux-Laucat, F and (2000) Dyserythropoiesis associated with a fas-deficient condition in childhood Br J Hematol, 108, pp. 300 - 304.
31. Jackson, CE and Puck, JM. (1999) Autoimmune lymphoproliferative syndrome, a disorder of apoptosis Curr Opin Pediatr, 6, pp. 521 - 527.
32. Fisher, GH and Rosenberg, FJ and Straus, SE and Dale, JK and Middleton, LA and Lin, AY and (1995) Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome Cell, 81, pp. 935 - 946.
33. Lopatin, U and Yao, X and Williams, RK and Bleesing, JJ and Dale, JK and Wong, D and Teruya-Feldstein, J and Fritz, S and Morrow, MR and Fuss, I and Sneller, MC and Raffeld, M and Fleisher, TA and Puck, JM and Strober, W and Jaffe, ES and Straus, SE. (2001) Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression Blood, 97(10), pp. 3161 - 3170. May 15
34. Straus, SE and Jaffe, ES and Puck, JM and Dale, JK and Elkon, KB and (2001) The development of lymphomas in families with Autoimmune Lymphoproliferative Syndrome (ALPS) with germline Fas mutations and defective lymphocyte apoptosis Blood, 98, pp. 194 - 200.
35. Poppema, S and Maggio, E and van den Berg, A. (2004) Development of lymphoma in ALPS and its relationship to Fas gene mutations Leuk Lymphoma, 45, pp. 423 - 431.
36. Muschen, M and Warskulat, U and Beckmann, MW. (2000) Defining CD95 as a tumor suppressor gene J Mol Med, 78, pp. 312 - 325.
37. Muschen, M and Re, D and Brauninger, A and Wolf, J and Hansmann, ML and Diehl, V and Kuppers, R and Rajewsky, K. (2000) Somatic mutations of the CD95 gene in Hodgkin and Reed-Sternberg cells Cancer Res, 60, pp. 5640 - 5643.
38. Shin, MS and Kim, HS and Kang, CS and (2002) Inactivating mutations of CASP10 gene in non-Hodgkin lymphomas Blood, 99, pp. 4094 - 4099.
39. van der Werff ten Bosch, JE and Demanet, C and Balduck, N and Bakkus, MH and De Raeve, H and Desprechins, B and (2002) Reversion of autoimmune lymphoproliferative syndrome with an antimalarial drug: Preliminary results of a clinical cohort study and molecular observations Br J Haematol, 117, pp. 176 - 188.
40. Lutwick, L.(2005) Infections in asplenic patients. In From principles and practice of infectious diseases6th ed. (pp. 3524 - 3535). Philadelphia, PA: Elsevier Churchill Livingstone.
41. Heelan, BT and Tormey, V and Amlot, P and Payne, E and Mehta, A and Webster, AD. (2002) Effect of anti-CD20 (rituximab) on resistant thrombocytopenia in autoimmune lymphoproliferative syndrome Br J Haematol, 118, pp. 1078 - 1081.
42. Rao, VK and Dale, J and Hurley, H and Dugan, F and Tretler, J and Straus, SE. (2005) Use of mycophenolate mofetil in Children with chronic, refractory immune cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS) Br J Haemat, 129, pp. 534 - 538.
43. Lucignani, G and Paganelli, G and Bomabardieri, E. (2004) The use of standardized uptake values for assessing FDG uptake with PET in oncology: A clinical perspective Nucl Med Commun, 25, pp. 651 - 656.
44. Burton, C and Ell, P and Linch, D. (2004) The role of PET imaging in lymphoma Br J Haematol, 126, pp. 772 - 784.
45. Benkerrou, M and Le Deist, F and de Villartay, JP and Caillat-Zucman, S and Rieux-Laucat, F and Jabado, N and (1997) Correction of Fas (CD95) deficiency by haploidentical bone marrow transplantation Eur J Immunol, 27, pp. 2043 - 2047.
46. Sleight, BJ and Prasad, VS and DeLaat, C and Steele, P and Ballard, E and Arceci, RJ and (1998) Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation Bone Marrow Transplant, 22, pp. 375 - 380.
47. Jackson, CE and Fischer, RE and Hsu, AP and Anderson, SM and Choi, Y and Wang, J and Dale, JK and Fleisher, TA and Middelton, LA and Sneller, MC and Lenardo, MJ and Straus, SE and Puck, JM. (1999) Autoimmune lymphoproliferative syndrome with defective Fas: Genotype influences penetrance Am J Hum Genet, 64, pp. 1002 - 1014.
48. van der Burg, M and de Groot, R and Comans-Bitter, WM and den Hollander, JC and Hooijkaas, H and Neijens, HJ and Berger, RM and Oranje, AP and Langerak, AW and van Dongen, JJ. (2000) Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: A dominant or recessive disease? Pediatr Res, 47, pp. 336 - 343.
49. Rieux-Laucat, F and Deist, FL and Fischer, A. (2003) Autoimmune lymphoproliferative syndromes: Genetic defects of apoptosis pathways (Review) Cell Death Differ, 10, pp. 124 - 133.
50. Cines, D and Bussel, JB. (2005) How I Treat: ITP Blood. [Epub ahead of print]