Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

Blood

Volumn 125, Issue 5, 2015, Pages 753-761

  Stepensky, Polina ^a   Rensing Ehl, Anne ^b   Gather, Ruth ^b,c   Revel Vilk, Shoshana ^a   Fischer, Ute ^d   Nabhani, Schafiq ^d   Beier, Fabian ^e   Brümmendorf, Tim H ^e   Fuchs, Sebastian ^b,c   Zenke, Simon ^b   Firat, Elke ^b   Pessach, Vered Molho ^a   Borkhardt, Arndt ^d   Rakhmanov, Mirzokhid ^b   Keller, Bärbel ^b   Warnatz, Klaus ^b   Eibel, Hermann ^b   Niedermann, Gabriele ^b   Elpeleg, Orly ^a   Ehl, Stephan ^b,c  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^e RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CD28 ANTIGEN; CD57 ANTIGEN; CHEMOKINE RECEPTOR CCR7; CYCLOSPORIN; DIPEPTIDYL PEPTIDASE; GAMMA INTERFERON; INTERLEUKIN 7 RECEPTOR; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; PERFORIN; RAPAMYCIN; RITUXIMAB; STAUROSPORINE; TRANSCRIPTION FACTOR T BET; TRIPEPTIDYL PEPTIDASE II; UNCLASSIFIED DRUG; AMINOPEPTIDASE; SERINE PROTEINASE; T BOX TRANSCRIPTION FACTOR; T-BOX TRANSCRIPTION FACTOR TBX21; TRIPEPTIDYL-PEPTIDASE 2;

ANIMAL EXPERIMENT; ANIMAL MODEL; APOPTOSIS; AUTOIMMUNE HEMOLYTIC ANEMIA; AUTOIMMUNITY; B LYMPHOCYTE; CD8+ T LYMPHOCYTE; CELL DEATH; CHILD; CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; GRANULOCYTE; HUMAN; IMMUNE DEFICIENCY; IMMUNE DYSREGULATION; IMMUNOSUPPRESSIVE TREATMENT; INFECTION SENSITIVITY; LEUKOPENIA; LYMPHOCYTE; MALE; MOUSE; NONHUMAN; PHENOTYPE; PREMATURE IMMUNOSENESCENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; SENESCENCE; SIBLING; T LYMPHOCYTE; TRIPEPTIDYL PEPTIDASE II DEFICIENCY; VIRUS INFECTION; AGING; ANIMAL; CASE REPORT; COMPLICATION; CONSANGUINITY; DEFICIENCY; FRAMESHIFT MUTATION; GENE EXPRESSION; GENETICS; IMMUNOLOGY; KNOCKOUT MOUSE; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; THROMBOCYTOPENIA;

AGING; AMINOPEPTIDASES; ANEMIA, HEMOLYTIC, AUTOIMMUNE; ANIMALS; APOPTOSIS; BASE SEQUENCE; CD8-POSITIVE T-LYMPHOCYTES; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DIPEPTIDYL-PEPTIDASES AND TRIPEPTIDYL-PEPTIDASES; FEMALE; FIBROBLASTS; FRAMESHIFT MUTATION; GENE EXPRESSION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MICE; MICE, KNOCKOUT; MOLECULAR SEQUENCE DATA; PERFORIN; SERINE ENDOPEPTIDASES; SIBLINGS; T-BOX DOMAIN PROTEINS; T-LYMPHOCYTES; THROMBOCYTOPENIA;

EID: 84921779190     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-08-593202     Document Type: Conference Paper

References (43)

1. Wang WC. Evans syndrome in childhood: pathophysiology, clinical course, and treatment. Am J Pediatr Hematol Oncol. 1988;10(4):330-338.
2. Price V. Auto-immune lymphoproliferative disorder and other secondary immune thrombocytopenias in childhood. Pediatr Blood Cancer. 2013;60(Suppl 1):S12-S14.
3. Al-Herz W, Bousfiha A, Casanova JL, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2014;5:162.
4. Rensing-Ehl A, Janda A, Lorenz MR, et al. Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia. Haematologica. 2013;98(12):1948-1955.
5. Goronzy JJ, Li G, Yang Z, Weyand CM. The janus head of T cell aging - autoimmunity and immunodeficiency. Front Immunol. 2013;4:131.
6. + T-cell pool with aging governed by T-cell receptor:pMHC interactions. Proc Natl Acad Sci USA. 2011;108(33):13694-13699.
7. Li G, Yu M, Lee WW, et al. Decline in miR-181a expression with age impairs T cell receptor sensitivity by increasing DUSP6 activity. Nat Med. 2012;18(10):1518-1524.
8. Scholz JL, Diaz A, Riley RL, Cancro MP, Frasca D. A comparative review of aging and B cell function in mice and humans. Curr Opin Immunol. 2013;25(4):504-510.
9. Fülöp T, Larbi A, Pawelec G. Human T cell aging and the impact of persistent viral infections. Front Immunol. 2013;4:271.
10. Geier E, Pfeifer G, Wilm M, et al. A giant protease with potential to substitute for some functions of the proteasome. Science. 1999;283(5404):978-981.
11. Reits E, Neijssen J, Herberts C, et al. A major role for TPP2 in trimming proteasomal degradation products for MHC class I antigen presentation. Immunity. 2004;20(4):495-506.
12. Rockel B, Peters J, Kühlmorgen B, Glaeser RM, Baumeister W. A giant protease with a twist: the TPP II complex from Drosophila studied by electron microscopy. EMBO J. 2002;21(22):5979-5984.
13. Gavioli R, Frisan T, Vertuani S, Bornkamm GW, Masucci MG. c-myc overexpression activates alternative pathways for intracellular proteolysis in lymphoma cells. Nat Cell Biol. 2001;3(3):283-288.
14. Hong X, Lei L, Glas R. Tumors acquire inhibitor of apoptosis protein (IAP)-mediated apoptosis resistance through altered specificity of cytosolic proteolysis. J Exp Med. 2003;197(12):1731-1743.
15. Huai J, Firat E, Nil A, et al. Activation of cellular death programs associated with immunosenescence-like phenotype in TPP2 knockout mice. Proc Natl Acad Sci USA. 2008; 105(13):5177-5182.
16. Firat E, Huai J, Saveanu L, et al. Analysis of direct and cross-presentation of antigens in TPP2 knockout mice. J Immunol. 2007;179(12):8137-8145.
17. Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7(8):575-576.
18. Duensing S, Darr S, Cuevas R, et al. Tripeptidyl peptidase II is required for c-MYC-induced centriole overduplication and a novel therapeutic target in c-MYC-associated neoplasms. Genes Cancer. 2010;1(9):883-892.
19. Marcilla M, Villasevil EM, de Castro JA. Tripeptidyl peptidase II is dispensable for the generation of both proteasome-dependent and proteasome-independent ligands of HLA-B27 and other class I molecules. Eur J Immunol. 2008;38(3):631-639.
20. Sallusto F, Lenig D, Förster R, Lipp M, Lanzavecchia A. Two subsets of memory T lymphocytes with distinct homing potentials and effector functions. Nature. 1999;401(6754):708-712.
21. Moir S, Ho J, Malaspina A, et al. Evidence for HIV-associated B cell exhaustion in a dysfunctional memory B cell compartment in HIV-infected viremic individuals. J Exp Med. 2008; 205(8):1797-1805.
22. Rakhmanov M, Keller B, Gutenberger S, et al. Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells. Proc Natl Acad Sci USA. 2009; 106(32):13451-13456.
23. Hao Y, O'Neill P, Naradikian MS, Scholz JL, Cancro MP. A B-cell subset uniquely responsive to innate stimuli accumulates in aged mice. Blood. 2011;118(5):1294-1304.
24. + B-cell population is important for the development of autoimmunity. Blood. 2011; 118(5):1305-1315.
25. Isnardi I, Ng YS, Menard L, et al. Complement receptor 2/CD21- human naive B cells contain mostly autoreactive unresponsive clones. Blood. 2010;115(24):5026-5036.
26. Hambleton S, McDonald DO, Morgan NV, et al. Autosomal recessive combined immunodeficiency due to loss of function mutation in tripeptidyl peptidase II [In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.]. J Clin Immunol. 2012;32:S385-S386.
27. Assounga AG, Warner CM. Transcription of major histocompatibility complex class I (Kb) and transporter associated with antigen processing 1 and 2 genes is up-regulated with age. Immunology. 2004;113(3):378-383.
28. Appay V, Dunbar PR, Callan M, et al. Memory CD81 T cells vary in differentiation phenotype in different persistent virus infections. Nat Med. 2002;8(4):379-385.
29. Nikolich-Zugich J. Ageing and life-long maintenance of T-cell subsets in the face of latent persistent infections. Nat Rev Immunol. 2008; 8(7):512-522.
30. Rutishauser RL, Kaech SM. Generating diversity: transcriptional regulation of effector and memory CD8 T-cell differentiation. Immunol Rev. 2010; 235(1):219-233.
31. Orth G. Genetics of epidermodysplasia verruciformis: Insights into host defense against papillomaviruses. Semin Immunol. 2006;18(6):362-374.
32. Crequer A, Troeger A, Patin E, et al. Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections. J Clin Invest. 2012;122(9):3239-3247.
33. Crequer A, Picard C, Patin E, et al. Inherited MST1 deficiency underlies susceptibility to EVHPV infections. PLoS ONE. 2012;7(8):e44010.
34. Moulias R, Proust J, Wang A, et al. Age-related increase in autoantibodies. Lancet. 1984;1(8386): 1128-1129.
35. Akbar AN, Henson SM. Are senescence and exhaustion intertwined or unrelated processes that compromise immunity? Nat Rev Immunol. 2011;11(4):289-295.
36. Rockel B, Kopec KO, Lupas AN, Baumeister W. Structure and function of tripeptidyl peptidase II, a giant cytosolic protease. Biochim Biophys Acta. 2012;1824(1):237-245.
37. Astle MV, Hannan KM, Ng PY, et al. AKT induces senescence in human cells via mTORC1 and p53 in the absence of DNA damage: implications for targeting mTOR during malignancy. Oncogene. 2012;31(15):1949-1962.
38. Lucas CL, Kuehn HS, Zhao F, et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110d result in T cell senescence and human immunodeficiency. Nat Immunol. 2014;15(1):88-97.
39. Angulo I, Vadas O, Garc¸on F, et al. Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science. 2013;342(6160):866-871.
40. Deau MC, Heurtier L, Frange P, et al. A human immunodeficiency caused by mutations in the PIK3R1 gene. J Clin Invest. 2014;124(9):3923-3928.
41. Schubert D, Bode C, Kenefeck R, et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations [published online ahead of print October 20, 2014]. Nat Med.
42. Kuehn HS, Ouyang W, Lo B, et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. 2014;345(6204):1623-1627.
43. Lopez-Herrera G, Tampella G, Pan-Hammarström Q, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 2012;90(6): 986-1001.