Genetic Defects of Apoptosis and Primary Immunodeficiency

Immunology and Allergy Clinics of North America

Volumn 28, Issue 2, 2008, Pages 329-351

  Su, Helen C ^a   Lenardo, Michael J ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

ACICLOVIR; AMOXICILLIN; AZATHIOPRINE; CORTICOSTEROID; CYCLOPHOSPHAMIDE; GRANULOCYTE COLONY STIMULATING FACTOR; IMMUNOGLOBULIN; METHYLPREDNISOLONE; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; PREDNISONE; QUINOLINE DERIVED ANTIINFECTIVE AGENT; RAPAMYCIN; RITUXIMAB; THYMOCYTE ANTIBODY; VINCRISTINE;

APOPTOSIS; AUTOIMMUNE DISEASE; CASPASE 8 DEFICIENCY STATE; ENZYME DEFICIENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HEMOLYTIC ANEMIA; HUMAN; IMMUNE DEFICIENCY; LYMPHADENOPATHY; LYMPHOCYTE; LYMPHOPROLIFERATIVE DISEASE; NEUTROPENIA; NONHUMAN; PRIORITY JOURNAL; REVIEW; SPLENOMEGALY; STREPTOCOCCUS INFECTION; THROMBOCYTOPENIA; UNSPECIFIED SIDE EFFECT;

APOPTOSIS; AUTOIMMUNE DISEASES; CASPASE 8; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; LYMPHOPROLIFERATIVE DISORDERS; RECEPTORS, ANTIGEN, T-CELL;

EID: 42049109891     PISSN: 08898561     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.iac.2008.01.002     Document Type: Review

References (92)

1. Su H.C., de Oliveira J.B., and Lenardo M.J. Programmed cell death in lymphocytes. In: Rich R.R., Shearer W.T., Fleischer T.A., et al. (Eds). Clinical immunology. 3rd edition (2008), Mosby, Philadelphia in press
2. Kroemer G., El-Deiry W.S., Golstein P., et al. Classification of cell death: recommendations of the Nomenclature Committee on Cell Death. Cell Death Differ 12 Suppl 2 (2005) 1463-1467
3. Lenardo M., Chan K.M., Hornung F., et al. Mature T lymphocyte apoptosis-immune regulation in a dynamic and unpredictable antigenic environment. Annu Rev Immunol 17 (1999) 221-253
4. Bleesing J.J.H. Autoimmune lymphoproliferative syndrome a genetic disorder of abnormal lymphocyte apoptosis. Immunol Allergy Clin North Am 22 (2002) 339-355
5. Janka G.E. Hemophagocytic syndromes. Blood Rev 21 (2007) 245-253
6. Bidere N., Su H.C., and Lenardo M.J. Genetic disorders of programmed cell death in the immune system. Annu Rev Immunol 24 (2006) 321-352
7. Nichols K.E., Ma C.S., Cannons J.L., et al. Molecular and cellular pathogenesis of X-linked lymphoproliferative disease. Immunol Rev 203 (2005) 180-199
8. Sneller M.C., Dale J.K., and Straus S.E. Autoimmune lymphoproliferative syndrome. Curr Opin Rheumatol 15 4 (2003) 417-421
9. Avila N.A., Dwyer A.J., Dale J.K., et al. Autoimmune lymphoproliferative syndrome: a syndrome associated with inherited genetic defects that impair lymphocytic apoptosis-CT and US features. Radiology 212 1 (1999) 257-263
10. Sneller M.C., Straus S.E., Jaffe E.S., et al. A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest 90 2 (1992) 334-341
11. Sneller M.C., Wang J., Dale J.K., et al. Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood 89 4 (1997) 1341-1348
12. Bleesing J.J., Brown M.R., Straus S.E., et al. Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome. Blood 98 8 (2001) 2466-2473
13. Rieux-Laucat F., Le Deist F., Hivroz C., et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 268 5215 (1995) 1347-1349
14. Aspinall A.I., Pinto A., Auer I.A., et al. Identification of new Fas mutations in a patient with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia. Blood Cells Mol Dis 25 3-4 (1999) 227-238
15. Rao V.K., and Straus S.E. Causes and consequences of the autoimmune lymphoproliferative syndrome. Hematology 11 1 (2006) 15-23
16. Carter L.B., Procter J.L., Dale J.K., et al. Description of serologic features in autoimmune lymphoproliferative syndrome. Transfusion 40 8 (2000) 943-948
17. Kwon S.W., Procter J., Dale J.K., et al. Neutrophil and platelet antibodies in autoimmune lymphoproliferative syndrome. Vox Sang 85 4 (2003) 307-312
18. Stroncek D.F., Carter L.B., Procter J.L., et al. RBC autoantibodies in autoimmune lymphoproliferative syndrome. Transfusion 41 1 (2001) 18-23
19. Fang B.S., Sneller M.C., Straus S.E., et al. Report of a factor VIII inhibitor in a patient with autoimmune lymphoproliferative syndrome. Am J Hematol 64 3 (2000) 214-217
20. Wong C.S., Arkwright P.D., Rieux-Laucat F., et al. Childhood linear IgA disease in association with autoimmune lymphoproliferative syndrome. Br J Dermatol 150 3 (2004) 578-580
21. Nose M., Nishihara M., Kamogawa J., et al. Genetic basis of autoimmune disease in MRL/lpr mice: dissection of the complex pathological manifestations and their susceptibility loci. Rev Immunogenet 2 1 (2000) 154-164
22. Maric I., Pittaluga S., Dale J.K., et al. Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome. Am J Surg Pathol 29 7 (2005) 903-911
23. Teachey D.T., Manno C.S., Axsom K.M., et al. Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS). Blood 105 6 (2005) 2443-2448 [epub 2004 Nov 2412]
24. Bazemore A.W., and Smucker D.R. Lymphadenopathy and malignancy. Am Fam Physician 66 11 (2002) 2103-2110
25. Brown J.R., and Skarin A.T. Clinical mimics of lymphoma. Oncologist 9 4 (2004) 406-416
26. Dianzani U., Bragardo M., DiFranco D., et al. Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation. Blood 89 8 (1997) 2871-2879
27. Campagnoli M.F., Garbarini L., Quarello P., et al. The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients. Haematologica 91 4 (2006) 538-541
28. Infante A.J., Britton H.A., DeNapoli T., et al. The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. J Pediatr 133 5 (1998) 629-633
29. Rieux-Laucat F., Blachere S., Danielan S., et al. Lymphoproliferative syndrome with autoimmunity: a possible genetic basis for dominant expression of the clinical manifestations. Blood 94 8 (1999) 2575-2582
30. Bleesing J.J., Brown M.R., Novicio C., et al. A composite picture of TcR alpha/beta(+) CD4(-)CD8(-) T Cells (alpha/beta-DNTCs) in humans with autoimmune lymphoproliferative syndrome. Clin Immunol 104 1 (2002) 21-30
31. Bleesing J.J., Brown M.R., Dale J.K., et al. TcR-alpha/beta(+) CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesis. Clin Immunol 100 3 (2001) 314-324
32. Wang J., Zheng L., Lobito A., et al. Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell 98 1 (1999) 47-58
33. Hao Z., Hampel B., Yagita H., et al. T cell-specific ablation of Fas leads to Fas ligand-mediated lymphocyte depletion and inflammatory pulmonary fibrosis. J Exp Med 199 10 (2004) 1355-1365
34. Stranges P.B., Watson J., Cooper C.J., et al. Elimination of antigen-presenting cells and autoreactive T cells by Fas contributes to prevention of autoimmunity. Immunity 26 5 (2007) 629-641
35. Broker B.M., Kraft M.S., Klauenberg U., et al. Activation induces apoptosis in Herpesvirus saimiri-transformed T cells independent of CD95 (Fas, APO-1). Eur J Immunol 27 11 (1997) 2774-2780
36. Fisher G.H., Rosenberg F.J., Straus S.E., et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 81 6 (1995) 935-946
37. Wu J., Wilson J., He J., et al. Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. J Clin Invest 98 5 (1996) 1107-1113
38. Del-Rey M., Ruiz-Contreras J., Bosque A., et al. A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome. Blood 108 4 (2006) 1306-1312
39. Bi L.L., Pan G., Atkinson T.P., et al. Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib. BMC Med Genet 8 (2007) 41-55
40. Oliveira J.B., Bidère N., Niemela J.E., et al. NRAS mutation causes a human autoimmune lymphoproliferative syndrome. Proc Natl Acad Sci U S A 104 21 (2007) 8953-8958
41. Holzelova E., Vonarbourg C., Stolzenberg M.C., et al. Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med 351 14 (2004) 1409-1418
42. Rossler J., Enders A., Lahr G., et al. Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome. J Pediatr 147 5 (2005) 691-694
43. Goldman F.D., Vibhakar R., Puck J.M., et al. Aberrant T-cell antigen receptor-mediated responses in autoimmune lymphoproliferative syndrome. Clin Immunol 104 1 (2002) 31-39
44. Bettinardi A., Brugnoni D., Quiros-Roldan E., et al. Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. Blood 89 3 (1997) 902-909
45. Chen M., Wang Y.H., Wang Y., et al. Dendritic cell apoptosis in the maintenance of immune tolerance. Science 311 5764 (2006) 1160-1164
46. Lim M.S., Straus S.E., Dale J.K., et al. Pathological findings in human autoimmune lymphoproliferative syndrome. Am J Pathol 153 5 (1998) 1541-1550
47. Lopatin U., Yao X., Williams R.K., et al. Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression. Blood 97 10 (2001) 3161-3170
48. Ohga S., Nomura A., Takahata Y., et al. Dominant expression of interleukin 10 but not interferon gamma in CD4(-)CD8(-)alphabetaT cells of autoimmune lymphoproliferative syndrome. Br J Haematol 119 2 (2002) 535-538
49. Fuss I.J., Strober W., Dale J.K., et al. Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity. J Immunol 158 4 (1997) 1912-1918
50. Bleesing J.J., Straus S.E., and Fleisher T.A. Autoimmune lymphoproliferative syndrome. A human disorder of abnormal lymphocyte survival. Pediatr Clin North Am 47 6 (2000) 1291-1310
51. Bleesing J.J. Sorting out the causes of ALPS. J Pediatr 147 5 (2005) 571-574
52. Rao V.K., Dugan F., Dale J.K., et al. Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome. Br J Haematol 129 4 (2005) 534-538
53. Kossiva L., Theodoridou M., Mostrou G., et al. Mycophenolate mofetil as an alternate immunosuppressor for autoimmune lymphoproliferative syndrome. J Pediatr Hematol Oncol 28 12 (2006) 824-826
54. Le Deist F., Emile J.F., Rieux-Laucat F., et al. Clinical, immunological, and pathological consequences of Fas-deficient conditions. Lancet 348 9029 (1996) 719-723
55. Heelan B.T., Tormey V., Amlot P., et al. Effect of anti-CD20 (rituximab) on resistant thrombocytopenia in autoimmune lymphoproliferative syndrome. Br J Haematol 118 4 (2002) 1078-1081
56. Teachey D.T., Obzut D.A., Axsom K., et al. Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS). Blood 108 6 (2006) 1965-1971
57. Benkerrou M., Le Deist F., de Villartay J.P., et al. Correction of Fas (CD95) deficiency by haploidentical bone marrow transplantation. Eur J Immunol 27 8 (1997) 2043-2047
58. Kahwash S.B., Fung B., Savelli S., et al. Autoimmune lymphoproliferative syndrome (ALPS): a case with congenital onset. Pediatr Dev Pathol 10 4 (2007) 315-319
59. Sleight B.J., Prasad V.S., DeLaat C., et al. Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation. Bone Marrow Transplant 22 4 (1998) 375-380
60. Rao V.K., Dowdell K.C., Dale J.K., et al. Pyrimethamine treatment does not ameliorate lymphoproliferation or autoimmune disease in MRL/lpr-/- mice or in patients with autoimmune lymphoproliferative syndrome. Am J Hematol 82 (2007) 1049-1055
61. Straus S.E., Jaffe E.S., Puck J.M., et al. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood 98 1 (2001) 194-200
62. Legembre P., Barnhart B.C., Zheng L., et al. Induction of apoptosis and activation of NF-kappaB by CD95 require different signalling thresholds. EMBO Rep 5 11 (2004) 1084-1089
63. Rao V.K., Carrasquillo J.A., Dale J.K., et al. Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS). Am J Hematol 81 2 (2006) 81-85
64. Vaishnaw A.K., Orlinick J.R., Chu J.L., et al. The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. J Clin Invest 103 3 (1999) 355-363
65. Martin D.A., Zheng L., Siegel R.M., et al. Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. Proc Natl Acad Sci U S A 96 8 (1999) 4552-4557
66. Siegel R.M., Frederiksen J.K., Zacharias D.A., et al. Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. Science 288 5475 (2000) 2354-2357
67. Siegel R.M., Muppidi J.R., Sarker M., et al. SPOTS: signaling protein oligomeric transduction structures are early mediators of death receptor-induced apoptosis at the plasma membrane. J Cell Biol 167 4 (2004) 735-744
68. Roesler J., Izquierdo J.M., Ryser M., et al. Haploinsufficiency rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM) is the basis for ALPS Ia in a family with duplicated 3′ splice site AG in CD95 intron 5 on one allele. Blood 106 5 (2005) 1652-1659
69. Cerutti E., Campagnoli M.F., Ferretti M., et al. Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. BMC Immunol 8 1 (2007) 28-35
70. Jackson C.E., Fischer R.E., Hsu A.P., et al. Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Am J Hum Genet 64 4 (1999) 1002-1014
71. van der Burg M., de Groot R., Comans-Bitter W.M., et al. Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?. Pediatr Res 47 3 (2000) 336-343
72. Kasahara Y., Wada T., Niida Y., et al. Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder. Int Immunol 10 2 (1998) 195-202
73. Zhu S., Hsu A.P., Vacek M.M., et al. Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. Hum Genet 119 3 (2006) 284-294 [epub 2006 Jan 2031]
74. Gronbaek K., Dalby T., Zeuthen J., et al. The V410I (G1228A) variant of the caspase-10 gene is a common polymorphism of the Danish population. Blood 95 6 (2000) 2184-2185
75. Peters A.M., Kohfink B., Martin H., et al. Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease. Exp Hematol 27 5 (1999) 868-874
76. Mateo V., Menager M., de Saint-Basile G., et al. Perforin-dependent apoptosis functionally compensates Fas-deficiency in activation-induced cell-death of human T-lymphocytes. Blood 110 (2007) 4285-4292
77. Clementi R., Chiocchetti A., Cappellano G., et al. Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective fas function. Blood 108 (2006) 3079-3084
78. Clementi R., Dagna L., Dianzani U., et al. Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. N Engl J Med 351 14 (2004) 1419-1424
79. Rieux-Laucat F., Le Deist F., and De Saint Basile G. Autoimmune lymphoproliferative syndrome and perforin. N Engl J Med 352 3 (2005) 306-307 author reply 306-7
80. Lobito A.A., Kimberley F.C., Muppidi J.R., et al. Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS). Blood 108 4 (2006) 1320-1327
81. Chiocchetti A., Indelicato M., Bensi T., et al. High levels of osteopontin associated with polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation. Blood 103 4 (2004) 1376-1382
82. Chun H.J., Zheng L., Ahmad M., et al. Pleiotropic lymphocyte activation defects due to caspase-8 mutation cause human immunodeficiency. Nature 419 (2002) 395-399
83. Su H., Bidere N., Zheng L., et al. Requirement for caspase-8 in NF-kappaB activation by antigen receptor. Science 307 5714 (2005) 1465-1468
84. Varfolomeev E.E., Schuchmann M., Luria V., et al. Targeted disruption of the mouse Caspase 8 gene ablates cell death induction by the TNF receptors, Fas/Apo1, and DR3 and is lethal prenatally. Immunity 9 2 (1998) 267-276
85. Salmena L., Lemmers B., Hakem A., et al. Essential role for caspase 8 in T-cell homeostasis and T-cell-mediated immunity. Genes Dev 17 7 (2003) 883-895 [epub 2003 Mar 2021]
86. Lemmers B., Salmena L., Bidere N., et al. Essential role for caspase-8 in Toll-like receptors and NFkappaB signaling. J Biol Chem 282 10 (2007) 7416-7423
87. Salmena L., and Hakem R. Caspase-8 deficiency in T cells leads to a lethal lymphoinfiltrative immune disorder. J Exp Med 202 6 (2005) 727-732
88. Salzer U., and Grimbacher B. Common variable immunodeficiency: the power of co-stimulation. Semin Immunol 18 6 (2006) 337-346
89. Ochs H.D., and Thrasher A.J. The Wiskott-Aldrich syndrome. J Allergy Clin Immunol 117 4 (2006) 725-738 [quiz: 739]
90. Orange J.S., Jain A., Ballas Z.K., et al. The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. J Allergy Clin Immunol 113 4 (2004) 725-733
91. Marsh RA, Snow AL, Roehrs P, et al. X-linked lymphoproliferative disease (XLP) is a disorder of abnormal lymphocyte function and homeostasis independent of EBV infection. Submitted for publication.
92. Chen G., Tai A.K., Lin M., et al. Increased proliferation of CD8(+) T cells in SAP-deficient mice is associated with impaired activation-induced cell death. Eur J Immunol 37 3 (2007) 663-674