Evolution of highly polymorphic T cell populations in siblings with the Wiskott-Aldrich syndrome

PLoS ONE

Volumn 3, Issue 10, 2008, Pages

  Lutskiy, Maxim I ^a   Park, Jun Y ^a   Remold, Susanna K ^b   Remold O'Donnell, Eileen ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF LOUISVILLE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYSTEINE; IMMUNOGLOBULIN; NEURAL WISKOTT ALDRICH SYNDROME PROTEIN; VALINE; WISKOTT ALDRICH SYNDROME PROTEIN; UNCLASSIFIED DRUG; WAS PROTEIN, HUMAN;

ACTIN FILAMENT; ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL LINEAGE; CELL MATURATION; CELLULAR IMMUNITY; CLINICAL FEATURE; CORD BLOOD STEM CELL TRANSPLANTATION; CYTOSKELETON; GENE LOCUS; GENETIC POLYMORPHISM; GERM LINE; HUMAN; HUMAN CELL; INHERITANCE; LEUKOCYTE; MALE; MOLECULAR EVOLUTION; MUTATIONAL ANALYSIS; NONHODGKIN LYMPHOMA; PREDICTION; PROTEIN DOMAIN; SIBLING; SOMATIC MUTATION; T CELL LYMPHOMA; T LYMPHOCYTE SUBPOPULATION; THYMOCYTE; WISKOTT ALDRICH SYNDROME; CYTOLOGY; GENETICS; IMMUNOLOGY; MUTATION; T LYMPHOCYTE; THYMUS;

MUS;

GERM-LINE MUTATION; HUMANS; SIBLINGS; T-LYMPHOCYTES; THYMUS GLAND; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

EID: 55349122944     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0003444     Document Type: Article

References (42)

1. Wiskott A (1936) Familiarer, angeobren Morbus Werlhofi? Monatschrift Kinderheil 68: 212.
2. Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA. (1994) A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 125: 876-885.
3. Filipovich AH, Stone JV, Tomany SC, Ireland M, Kollman C, et al. (2001) Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program. Blood 97: 1598-1603.
4. Imai K, Morio T, Zhu Y, Jin Y, Itoh S, et al. (2004) Clinical course of patients with WASP gene mutations. Blood 103: 456-464.
5. Chinen J, Puck JM (2004) Perspectives of gene therapy for primary immunodeficiencies. Curr Opin Allergy Clin Immunol 4: 523-527.
6. Cavazzana-Calvo M, Fischer A (2007) Gene therapy for severe combined immunodeficiency: are we there yet? J Clin Invest 117: 1456-1465.
7. Ariga T, Yamada M, Sakiyama Y, Tatsuzawa O (1998) A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: an additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes. Blood 92: 699-701.
8. Ariga T, Kondoh T, Yamaguchi K, Yamada M, Sasaki S, et al. (2001) Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome. J Immunol 166: 5245-5249.
9. Wada T, Schurman SH, Otsu M, Garabedian EK, Ochs HD, et al. (2001) Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism. Proc Natl Acad Sci U S A 98: 8697-8702.
10. Wada T, Konno A, Schurman SH, Garabedian EK, Anderson SM, et al. (2003) Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. J Clin Invest 111: 1389-1397.
11. Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, et al. (2004) Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood 104: 4010-4019.
12. Lutskiy MI, Beardsley DS, Rosen FS, Remold-O'Donnell E (2005) Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome. Blood 106: 2815-2817.
13. Du W, Kumaki S, Uchiyama T, Yachie A, Yeng Looi C, et al. (2006) A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient. Hum Mutat 27: 370-375.
14. Burns S, Cory GO, Vainchenker W, Thrasher AJ (2004) Mechanisms of WASp-mediated hematologic and immunologic disease. Blood 104: 3454-3462.
15. Rohatgi R, Ma L, Miki H, Lopez M, Kirchhausen T, et al. (1999) The interaction between N-WASP and the Arp2/3 complex links Cdc42-dependent signals to actin assembly. Cell 97: 221-231.
16. Sims TN, Soos TJ, Xenias HS, Dubin-Thaler B, Hofman JM, et al. (2007) Opposing effects of PKCtheta and WASp on symmetry breaking and relocation of the immunological synapse. Cell 129: 773-785.
17. Prehoda KE, Scott JA, Mullins RD, Lim WA (2000) Integration of multiple signals through cooperative regulation of the N-WASP-Arp2/3 complex. Science 290: 801-806.
18. Park JY, Kob M, Prodeus AP, Rosen FS, Sheherbina A, et al. (2004) Early deficit of lymphocyte in Wiskott-Aldrich syndrome: possible role of WASP in human lymphocyte maturation. Clin Exp Immunol 136: 104-110.
19. Wengler G, Gorlin JB, Williamson JM, Rosen FS, Bing DH (1995) Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome. Blood 85: 2471-2477.
20. Zhu Q, Zhang M, Blaese RM, Derry JM, Junker A, et al. (1995) The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood 86: 3797-3804.
21. Lutskiy MI, Rosen FS, Rentold-O'Donnell E (2005) Genotype-proteotype linkage in the Wiskott-Aldrich syndrome. J Immunol 175: 1329-1336.
22. Sallusto F, Lenig D, Forster R, Lipp M, Lanzavecchia A (1999) Two subsets of memory T lymphocytes with distinct homing potentials and effector functions. Nature 401: 708-712.
23. Klein U, Rajewsky K, Kuppers R (1998) Human immunoglobulin (Ig)M+IgD+ peripheral blood B cells expressing the CD27 cell surface antigen carry somatically mutated variable region genes: CD27 as a general marker for somatically mutated (memory) B cells. J Exp Med 188: 1679-1689.
24. Agematsu K, Hokibara S, Nagumo H, Komiyama A (2000) CD27: a memory B-cell marker. Immunol Today 21: 204-206.
25. Kwan SP, Hagemann TL, Radtke BE, Blaese RM, Rosen FS (1995) Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene. Proc Natl Acad Sci U S A 92: 4706-4710.
26. Shcherbina A, Rosen FS, Remold-O'Donnell E (1999) WASP levels in platelets and lymphocytes of Wiskott-Aldrich syndrome patients correlate with cell dysfunction. J Immunol 163: 6314-6320.
27. Remold-O'Donnell E, Cooley J, Shcherbina A, Hagemann TL, Kwan SP, et al. (1997) Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. J Immunol 158: 4021-4025.
28. Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang CK, et al. (1996) Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat Genet 13: 290-295.
29. Stewart DM, Candotti F, Nelson DL (2007) The Phenomenon of Spontaneous Genetic Reversions in the Wiskott-Aldrich Syndrome: A Report of the Workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, 2006. J Clin Immunol.
30. Davis BR, Dicola MJ, Prokopishyn NL, Rosenberg JB, Moratto D, et al. (2008) Unprecedented diversity of genotypic revertants in lymphocytes of a patient with the Wiskott-Aldrich Syndrome. Blood.
31. von Boehmer H, Aifantis I, Gounari F, Azogui O, Haughn L, et al. (2003) Thymic selection revisited: how essential is it? Immunol Rev 191: 62-78.
32. Snapper SB, Rosen FS, Mizoguchi E, Cohen P, Khan W, et al. (1998) Wiskott-Aldrich syndrome protein-deficient mice reveal a role for WASP in T but not B cell activation. Immunity 9: 81-91.
33. Zhang J, Shi F, Badour K, Deng Y, McGavin MK, et al. (2002) WASp verprolin homology, cofilin homology, and acidic region domain-mediated actin polymerization is required for T cell development. Proc Natl Acad Sci U S A 99: 2240-2245.
34. Takenawa T, Miki H (2001) WASP and WAVE family proteins: key molecules for rapid rearrangement of cortical actin filaments and cell movement. J Cell Sci 14: 1801-1809.
35. Cotta-de-Almeida V, Westerberg L, Maillard MH, Onaldi D, Wachtel H, et al. (2007) Wiskott Aldrich syndrome protein (WASP) and N-WASP are critical for T cell development. Proc Natl Acad Sci U S A 104: 15424-15429.
36. Almeida AR, Rocha B, Freitas AA, Tanchot C (2005) Homoeostasis of T cell numbers: from thymus production to peripheral compartmentalization and the indexation of regulatory T cells. Semin Immunol 17: 239-249.
37. Lutskiy MI, Sasahara Y, Kenney DM, Rosen FS, Remold-O'Donnnell E (2002) Wiskott-Aldrich syndrome in a female. Blood 100: 2763-2768.
38. Molina IJ, Sancho J, Terhorst C, Rosen FS, Remold-O'Donnell E (1993) T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses. J Immunol 151: 4383-4390.
39. Dupre L, Aiuti A, Trifari S, Martino S, Saracco P, et al. (2002) Wiskott-Aldrich syndrome protein regulates lipid raft dynamics during immunological synapse formation. Immunity 17: 157-166.
40. Wada T, Toma T, Okamoto H, Kasahara Y, Koizumi S, et al. (2005) Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency. Blood 106: 2099-2101.
41. Rieux-Laucat F, Hivroz C, Lim A, Mateo V, Pellier I, et al. (2006) Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. N Engl J Med 354: 1913-1921.
42. Jones L, Lutskiy M, Cooley J, Kenney D, Rosen F, et al. (2002) A novel protocol to identify mutations in patients with Wiskott-Aldrich syndrome. Blood Cells Mol Dis 28: 392.