X-linked lymphoproliferative syndromes and related autosomal recessive disorders

Current Opinion in Allergy and Clinical Immunology

Volumn 13, Issue 6, 2013, Pages 614-622

  Veillette, André ^a,b,c   Pérez Quintero, Luis Alberto ^a,c   Latourd, Sylvain ^d  

^a CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

CD27; Interleukin 2 inducible T cell kinase; Signaling lymphocytic activation molecule associated protein; X linked inhibitor of apoptosis; X linked lymphoproliferative

Indexed keywords

B LYMPHOCYTE ANTIGEN; CD150 ANTIGEN; CD27 ANTIGEN; KHELLIN; LYMPHOCYTE ANTIGEN RECEPTOR; MITOGEN ACTIVATED PROTEIN KINASE; PATTERN RECOGNITION RECEPTOR; PERFORIN; PROTEIN KINASE FYN; PROTEIN TYROSINE PHOSPHATASE SHP; SIGNALING LYMPHOCYTE ACTIVATION MOLECULE ASSOCIATED PROTEIN; TRANSFORMING GROWTH FACTOR BETA; TUMOR NECROSIS FACTOR; X LINKED INHIBITOR OF APOPTOSIS;

ALLOGENEIC STEM CELL TRANSPLANTATION; APOPTOSIS; AUTOSOMAL RECESSIVE DISORDER; B LYMPHOCYTE; BACTERIAL CELL WALL; BONE MARROW CELL; CD8+ T LYMPHOCYTE; CELL DIFFERENTIATION; CLINICAL FEATURE; CYTOPENIA; CYTOTOXICITY; DENDRITIC CELL; ENGRAFTMENT; EPSTEIN BARR VIRUS INFECTION; EXOCYTOSIS; GENE IDENTIFICATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GERMINAL CENTER; GRAFT VERSUS HOST REACTION; HEMATOPOIETIC CELL; HEMOPHAGOCYTIC SYNDROME; HEMORRHAGIC COLITIS; HUMAN; IMMUNOCOMPETENT CELL; IMMUNOGLOBULIN DEFICIENCY; IMMUNOSTIMULATION; LOSS OF FUNCTION MUTATION; LYMPHOCYTE ACTIVATION; LYMPHOCYTE PROLIFERATION; LYMPHOCYTOPENIA; LYMPHOMA; LYMPHOPROLIFERATIVE DISEASE; MACROPHAGE; MEMORY CELL; MUTATIONAL ANALYSIS; MYELOABLATIVE CONDITIONING; NATURAL KILLER CELL; NATURAL KILLER T CELL; NONHUMAN; OLIGOMERIZATION; PATHOGENESIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN INTERACTION; PROTEIN PHOSPHORYLATION; RECURRENT INFECTION; REVIEW; SIGNAL TRANSDUCTION; SPLENOMEGALY; STEM CELL TRANSPLANTATION; TARGET CELL; THYMOCYTE; X CHROMOSOME;

ANTIGENS, CD27; CD8-POSITIVE T-LYMPHOCYTES; GENETIC DISEASES, INBORN; HERPESVIRUS 4, HUMAN; HUMANS; INFECTIOUS MONONUCLEOSIS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KILLER CELLS, NATURAL; LYMPHOPROLIFERATIVE DISORDERS; MUTATION; NATURAL KILLER T-CELLS; PROTEIN-TYROSINE KINASES; X-LINKED INHIBITOR OF APOPTOSIS PROTEIN;

EID: 84889883472     PISSN: 15284050     EISSN: 14736322     Source Type: Journal    
DOI: 10.1097/ACI.0000000000000008     Document Type: Review

References (44)

1. Purtilo DT, Cassel CK, Yang JP, Harper R. X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet 1975; 1:935-940.
2. Engel P, Eck MJ, Terhorst C. The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease. Nat Rev Immunol 2003; 3:813-821.
3. Latour S, Veillette A. Molecular and immunological basis of X-linked lymphoproliferative disease. Immunol Rev 2003; 192:212-224.
4. Nichols KE, Ma CS, Cannons JL, et al. Molecular and cellular pathogenesis of X-linked lymphoproliferative disease. Immunol Rev 2005; 203:180-199.
5. Sayos J, Wu C, Morra M, et al. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature 1998; 395:462-469.
6. Nichols KE, Harkin DP, Levitz S, et al. Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A 1998; 95:13765-13770.
7. Coffey AJ, Brooksbank RA, Brandau O, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet 1998; 20:129-135.
8. Cannons JL, Tangye SG, Schwartzberg PL. SLAM family receptors and SAP adaptors in immunity. Annu Rev Immunol 2011; 29:665-705.
9. Veillette A, Dong Z, Perez-Quintero LA, et al. Importance and mechanism of 'switch' function of SAP family adapters. Immunol Rev 2009; 232:229-239.
10. Dong Z, Cruz-Munoz ME, Zhong MC, et al. Essential function for SAP family adaptors in the surveillance of hematopoietic cells by natural killer cells. Nat Immunol 2009; 10:973-980.
11. Dong Z, Davidson D, Perez-Quintero LA, et al. The adaptor SAP controls NK cell activation by regulating the enzymes Vav-1 and SHIP-1 and by enhancing conjugates with target cells. Immunity 2012; 36:974-985. This study showed that SAP promotes the functions of SLAM family receptors by a dual mechanism of action.
12. Kageyama R, Cannons JL, Zhao F, et al. The receptor Ly108 functions as a SAP adaptor-dependent on-off switch for T cell help to B cells and NKT cell development. Immunity 2012; 36:986-1002. This study showed that SAP promotes the functions of SLAM family receptors by a dual mechanism of action.
13. Zhao F, Cannons JL, Dutta M, et al. Positive and negative signaling through SLAM receptors regulate synapse organization and thresholds of cytolysis. Immunity 2012; 36:1003-1016. This study showed that SAP promotes the functions of SLAM family receptors by a dual mechanism of action.
14. Palendira U, Low C, Chan A, et al. Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP. PLoS Biol 2011; 9:e1001187.
15. Cannons JL, Yu LJ, Jankovic D, et al. SAP regulates T cell-mediated help for humoral immunity by a mechanism distinct from cytokine regulation. J Exp Med 2006; 203:1551-1565.
16. Qi H, Cannons JL, Klauschen F, et al. SAP-controlled T-B cell interactions underlie germinal centre formation. Nature 2008; 455:764-769.
17. Snow AL, Marsh RA, Krummey SM, et al. Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency. J Clin Invest 2009; 119:2976-2989.
18. Palendira U, Low C, Bell AI, et al. Expansion of somatically reverted memory CD8 ; T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus. J Exp Med 2012; 209:913-924. This study provided evidence that CD8 ; T cells and, possibly, NK cells are critical for the control of EBV infection and the pathogenesis of XLP.
19. Booth C, Gilmour KC, Veys P, et al. X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: A multicenter study on the manifestations, management and outcome of the disease. Blood 2011; 117:53-62.
20. Rivat C, Booth C, Alonso-Ferrero M, et al. SAP gene transfer restores cellular and humoral immune function in a murine model of X-linked lymphoproliferative disease. Blood 2013; 121:1073-1076. This publication suggested that gene therapy might be a valuable new approach for the treatment of XLP caused by SAP deficiency.
21. Rigaud S, Fondaneche MC, Lambert N, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006; 444:110-114.
22. Beug ST, Cheung HH, LaCasse EC, Korneluk RG. Modulation of immune signalling by inhibitors of apoptosis. Trends Immunol 2012; 33:535-545.
23. Damgaard RB, Nachbur U, Yabal M, et al. The ubiquitin ligase XIAP recruits LUBAC for NOD2 signaling in inflammation and innate immunity. Mol Cell 2012; 46:746-758. This reference provided a possible explanation for the enhanced susceptibility of XIAP-deficient humans to colitis.
24. Krieg A, Correa RG, Garrison JB, et al. XIAP mediates NOD signaling via interaction with RIP2. Proc Natl Acad Sci U S A 2009; 106:14524-14529.
25. Werts C, Rubino S, Ling A, et al. Nod-like receptors in intestinal homeostasis, inflammation, and cancer. J Leukoc Biol 2011; 90:471-482.
26. Pachlopnik Schmid J, Canioni D, Moshous D, et al. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood 2011; 117:1522-1529.
27. Gerart S, Siberil S, Martin E, et al. Human iNKT and MAIT cells exhibit a PLZF-dependent proapoptotic propensity that is counterbalanced by XIAP. Blood 2013; 121:614-623. This study showed that NKT cells and MAIT cells from XIAP-deficient humans are more susceptible to apoptosis due to overactive caspases.
28. Harlin H, Reffey SB, Duckett CS, et al. Characterization of XIAP-deficient mice. Mol Cell Biol 2001; 21:3604-3608.
29. Rumble JM, Oetjen KA, Stein PL, et al. Phenotypic differences between mice deficient in XIAP and SAP, two factors targeted in X-linked lymphoproliferative syndrome (XLP). Cell Immunol 2009; 259:82-89.
30. Marsh RA, Rao K, Satwani P, et al. Allogeneic hematopoietic cell transplantation for XIAP deficiency: An international survey reveals poor outcomes. Blood 2013; 121:877-883. This study showed that XIAP-deficient humans respond poorly to ASCT, due to increased toxicity.
31. Mansouri D, Mahdaviani SA, Khalilzadeh S, et al. IL-2-inducible T-cell kinase deficiency with pulmonary manifestations due to disseminated Epstein-Barr virus infection. Int Arch Allergy Immunol 2012; 158:418-422.
32. Huck K, Feyen O, Niehues T, et al. Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBVassociated lymphoproliferation. J Clin Invest 2009; 119:1350-1358.
33. Linka RM, Risse SL, Bienemann K, et al. Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases. Leukemia 2012; 26:963-971.
34. Readinger JA, Mueller KL, Venegas AM, et al. Tec kinases regulate T-lymphocyte development and function: new insights into the roles of Itk and Rlk/Txk. Immunol Rev 2009; 228:93-114.
35. Salzer E, Daschkey S, Choo S, et al. Combined immunodeficiency with lifethreatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. Haematologica 2013; 98:473-478. This study was the first report of CD27 deficiency in humans.
36. van Montfrans JM, Hoepelman AI, Otto S, et al. CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. J Allergy Clin Immunol 2012; 129:787-793. This study was the first report of CD27 deficiency in humans.
37. Denoeud J, Moser M. Role of CD27/CD70 pathway of activation in immunity and tolerance. J Leukoc Biol 2011; 89:195-203.
38. Moshous D, Martin E, Carpentier W, et al. Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. J Allergy Clin Immunol 2013; 131:1594-1603. This report suggested that humans with Coronin 1A deficiency could develop an XLP-like disorder.
39. Shiow LR, Roadcap DW, Paris K, et al. The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency. Nat Immunol 2008; 9:1307-1315.
40. Mueller P, Liu X, Pieters J. Migration and homeostasis of naive T cells depends on coronin 1-mediated prosurvival signals and not on coronin 1-dependent filamentous actin modulation. J Immunol 2011; 186:4039-4050.
41. Shiow LR, Paris K, Akana MC, et al. Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. Clin Immunol 2009; 131:24-30.
42. Filipovich AH. The expanding spectrum of hemophagocytic lymphohistiocytosis. Curr Opin Allergy Clin Immunol 2011; 11:512-516.
43. de Saint Basile G, Menasche G, Fischer A. Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules. Nat Rev Immunol 2010; 10:568-579.
44. Cote M, Menager MM, Burgess A, et al. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest 2009; 119:3765-3773.