X-linked primary immunodeficiencies as a bridge to better understandingX-chromosome related autoimmunity

Journal of Autoimmunity

Volumn 33, Issue 1, 2009, Pages 17-24

  Pessach, Itai M ^a,b   Notarangelo, Luigi D ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b SHEBA MEDICAL CENTER   (Israel)

Author keywords

Autoimmunity; Primary immune deficiency; X linked

Indexed keywords

GENE PRODUCT; I KAPPA B KINASE GAMMA;

AUTOIMMUNE POLYENDOCRINOPATHY; AUTOIMMUNITY; CHRONIC GRANULOMATOUS DISEASE; CLINICAL FEATURE; ENZYME DEFICIENCY; HOMEOSTASIS; HUMAN; HYPER IGM SYNDROME; I KAPPA B KINASE GAMMA DEFICIENCY; IMMUNE DEFICIENCY; IMMUNE DYSREGULATION; IPEX SYNDROME; LYMPHOPROLIFERATIVE DISEASE; NONHUMAN; PATHOPHYSIOLOGY; PRIMARY IMMUNE RESPONSE; PRIORITY JOURNAL; REVIEW; WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKED DISORDER; X LINKED AGAMMAGLOBULINEMIA;

ANIMALS; AUTOIMMUNITY; CHROMOSOMES, HUMAN, X; FEMALE; HOMEOSTASIS; HUMANS; IMMUNE TOLERANCE; MICE; MICE, MUTANT STRAINS; MUTATION; SIGNAL TRANSDUCTION; X-LINKED COMBINED IMMUNODEFICIENCY DISEASES;

EID: 67349248095     PISSN: 08968411     EISSN: 10959157     Source Type: Journal    
DOI: 10.1016/j.jaut.2009.03.003     Document Type: Review

References (96)

1. Carneiro-Sampaio M., and Coutinho A. Tolerance and autoimmunity: lessons at the bedside of primary immunodeficiencies. Adv Immunol 95 (2007) 51-82
2. Etzioni A. Immune deficiency and autoimmunity. Autoimmun Rev 2 (2003) 364-369
3. Notarangelo L.D., Gambineri E., and Badolato R. Immunodeficiencies with autoimmune consequences. Adv Immunol 89 (2006) 321-370
4. Torgerson T.R., and Ochs H.D. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells. J Allergy Clin Immunol 120 (2007) 744-750 [quiz 751-2]
5. Powell B.R., Buist N.R., and Stenzel P. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 100 (1982) 731-737
6. Ochs H.D., Ziegler S.F., and Torgerson T.R. FOXP3 acts as a rheostat of the immune response. Immunol Rev 203 (2005) 156-164
7. Bindl L., Torgerson T., Perroni L., Youssef N., Ochs H.D., Goulet O., et al. Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome). J Pediatr 147 (2005) 256-259
8. Mazzolari E., Forino C., Fontana M., D'Ippolito C., Lanfranchi A., Gambineri E., et al. A new case of IPEX receiving bone marrow transplantation. Bone Marrow Transplant 35 (2005) 1033-1034
9. Rao A., Kamani N., Filipovich A., Lee S.M., Davies S.M., Dalal J., et al. Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Blood 109 (2007) 383-385
10. Torgerson T.R., Linane A., Moes N., Anover S., Mateo V., Rieux-Laucat F., et al. Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene. Gastroenterology 132 (2007) 1705-1717
11. Marquis E., Robert J.J., Bouvattier C., Bellanne-Chantelot C., Junien C., and Diatloff-Zito C. Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes. J Med Genet 39 (2002) 370-374
12. Owen C.J., Jennings C.E., Imrie H., Lachaux A., Bridges N.A., Cheetham T.D., et al. Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome. J Clin Endocrinol Metab 88 (2003) 6034-6039
13. Caudy A.A., Reddy S.T., Chatila T., Atkinson J.P., and Verbsky J.W. CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. J Allergy Clin Immunol 119 (2007) 482-487
14. Lyon M.F., Peters J., Glenister P.H., Ball S., and Wright E. The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome. Proc Natl Acad Sci U S A 87 (1990) 2433-2437
15. Chatila T.A., Blaeser F., Ho N., Lederman H.M., Voulgaropoulos C., Helms C., et al. JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. J Clin Invest 106 (2000) R75-R81
16. Brunkow M.E., Jeffery E.W., Hjerrild K.A., Paeper B., Clark L.B., Yasayko S.A., et al. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nat Genet 27 (2001) 68-73
17. Godfrey V.L., Wilkinson J.E., Rinchik E.M., and Russell L.B. Fatal lymphoreticular disease in the scurfy (sf) mouse requires T cells that mature in a sf thymic environment: potential model for thymic education. Proc Natl Acad Sci U S A 88 (1991) 5528-5532
18. + regulatory T cells. Nat Immunol 4 (2003) 330-336
19. Khattri R., Kasprowicz D., Cox T., Mortrud M., Appleby M.W., Brunkow M.E., et al. The amount of scurfin protein determines peripheral T cell number and responsiveness. J Immunol 167 (2001) 6312-6320
20. Sakaguchi S., Yamaguchi T., Nomura T., and Ono M. Regulatory T cells and immune tolerance. Cell 133 (2008) 775-787
21. Nieves D.S., Phipps R.P., Pollock S.J., Ochs H.D., Zhu Q., Scott G.A., et al. Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Arch Dermatol 140 (2004) 466-472
22. Tang Q., and Bluestone J.A. Regulatory T-cell physiology and application to treat autoimmunity. Immunol Rev 212 (2006) 217-237
23. Bruton O.C. Agammaglobulinemia. Pediatrics 9 (1952) 722-728
24. Winkelstein J.A., Marino M.C., Lederman H.M., Jones S.M., Sullivan K., Burks A.W., et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) 85 (2006) 193-202
25. Tsukada S., Saffran D.C., Rawlings D.J., Parolini O., Allen R.C., Klisak I., et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72 (1993) 279-290
26. Vetrie D., Vorechovsky I., Sideras P., Holland J., Davies A., Flinter F., et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 361 (1993) 226-233
27. Conley M.E., and Howard V. Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J Pediatr 141 (2002) 566-571
28. Howard V., Greene J.M., Pahwa S., Winkelstein J.A., Boyle J.M., Kocak M., et al. The health status and quality of life of adults with X-linked agammaglobulinemia. Clin Immunol 118 (2006) 201-208
29. Hunter H.L., McKenna K.E., and Edgar J.D. Eczema and X-linked agammaglobulinaemia. Clin Exp Dermatol 33 (2008) 148-150
30. Ochs H.D., and Notarangelo L.D. X-linked immunodeficiencies. Curr Allergy Asthma Rep 4 (2004) 339-348
31. Verbruggen G., De Backer S., Deforce D., Demetter P., Cuvelier C., Veys E., et al. X linked agammaglobulinaemia and rheumatoid arthritis. Ann Rheum Dis 64 (2005) 1075-1078
32. Yong P.F., Workman S., Wahid F., Exley A., Webster A.D., and Ibrahim M.A. Selective deficits in blood dendritic cell subsets in common variable immunodeficiency and X-linked agammaglobulinaemia but not specific polysaccharide antibody deficiency. Clin Immunol 127 (2008) 34-42
33. Lee K.G., Xu S., Wong E.T., Tergaonkar V., and Lam K.P. Bruton's tyrosine kinase separately regulates NFkappaB p65RelA activation and cytokine interleukin (IL)-10/IL-12 production in TLR9-stimulated B Cells. J Biol Chem 283 (2008) 11189-11198
34. Knight A.K., and Cunningham-Rundles C. Inflammatory and autoimmune complications of common variable immune deficiency. Autoimmun Rev 5 (2006) 156-159
35. Roifman C.M., Rao C.P., Lederman H.M., Lavi S., Quinn P., and Gelfand E.W. Increased susceptibility to Mycoplasma infection in patients with hypogammaglobulinemia. Am J Med 80 (1986) 590-594
36. Notarangelo L.D., Lanzi G., Peron S., and Durandy A. Defects of class-switch recombination. J Allergy Clin Immunol 117 (2006) 855-864
37. Gulino A.V., and Notarangelo L.D. Hyper IgM syndromes. Curr Opin Rheumatol 15 (2003) 422-429
38. Notarangelo L.D., and Hayward A.R. X-linked immunodeficiency with hyper-IgM (XHIM). Clin Exp Immunol 120 (2000) 399-405
39. Ameratunga R., Lederman H.M., Sullivan K.E., Ochs H.D., Seyama K., French J.K., et al. Defective antigen-induced lymphocyte proliferation in the X-linked hyper-IgM syndrome. J Pediatr 131 (1997) 147-150
40. Fontana S., Moratto D., Mangal S., De Francesco M., Vermi W., Ferrari S., et al. Functional defects of dendritic cells in patients with CD40 deficiency. Blood 102 (2003) 4099-4106
41. Jain A., Atkinson T.P., Lipsky P.E., Slater J.E., Nelson D.L., and Strober W. Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome. J Clin Invest 103 (1999) 1151-1158
42. Levy J., Espanol-Boren T., Thomas C., Fischer A., Tovo P., Bordigoni P., et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 131 (1997) 47-54
43. Hayward A.R., Levy J., Facchetti F., Notarangelo L., Ochs H.D., Etzioni A., et al. Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM. J Immunol 158 (1997) 977-983
44. Lougaris V., Badolato R., Ferrari S., and Plebani A. Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features. Immunol Rev 203 (2005) 48-66
45. Kumanogoh A., Wang X., Lee I., Watanabe C., Kamanaka M., Shi W., et al. Increased T cell autoreactivity in the absence of CD40-CD40 ligand interactions: a role of CD40 in regulatory T cell development. J Immunol 166 (2001) 353-360
46. White A.J., Withers D.R., Parnell S.M., Scott H.S., Finke D., Lane P.J., et al. Sequential phases in the development of Aire-expressing medullary thymic epithelial cells involve distinct cellular input. Eur J Immunol 38 (2008) 942-947
47. Herve M., Isnardi I., Ng Y.S., Bussel J.B., Ochs H.D., Cunningham-Rundles C., et al. CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance. J Exp Med 204 (2007) 1583-1593
48. Jain A., Ma C.A., Liu S., Brown M., Cohen J., and Strober W. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol 2 (2001) 223-228
49. Zonana J., Elder M.E., Schneider L.C., Orlow S.J., Moss C., Golabi M., et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet 67 (2000) 1555-1562
50. Orange J.S., Levy O., and Geha R.S. Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation. Immunol Rev 203 (2005) 21-37
51. Jesus A., Duarte A., and Oliveira J. Autoimmunity in hyper-IgM syndrome. J Clin Immunol 28 (2008) 62-66
52. Friedrichs F., Henckaerts L., Vermeire S., Kucharzik T., Seehafer T., Moller-Krull M., et al. The Crohn's disease susceptibility gene DLG5 as a member of the CARD interaction network. J Mol Med 86 (2008) 423-432
53. Girardin S.E., Boneca I.G., Viala J., Chamaillard M., Labigne A., Thomas G., et al. Nod2 is a general sensor of peptidoglycan through muramyl dipeptide (MDP) detection. J Biol Chem 278 (2003) 8869-8872
54. Toubi E., and Shoenfeld Y. Toll-like receptors and their role in the development of autoimmune diseases. Autoimmunity 37 (2004) 183-188
55. Zhang B., Wang Z., Ding J., Peterson P., Gunning W.T., and Ding H.F. NF-kappaB2 is required for the control of autoimmunity by regulating the development of medullary thymic epithelial cells. J Biol Chem 281 (2006) 38617-38624
56. Zhu M., Chin R.K., Christiansen P.A., Lo J.C., Liu X., Ware C., et al. NF-kappaB2 is required for the establishment of central tolerance through an Aire-dependent pathway. J Clin Invest 116 (2006) 2964-2971
57. Goldblatt D., and Thrasher A.J. Chronic granulomatous disease. Clin Exp Immunol 122 (2000) 1-9
58. Rosenzweig S.D., and Holland S.M. Phagocyte immunodeficiencies and their infections. J Allergy Clin Immunol 113 (2004) 620-626
59. Winkelstein J.A., Marino M.C., Johnston Jr. R.B., Boyle J., Curnutte J., Gallin J.I., et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79 (2000) 155-169
60. Goldblatt D. Current treatment options for chronic granulomatous disease. Expert Opin Pharmacother 3 (2002) 857-863
61. + flux. Nature 416 (2002) 291-297
62. Bylund J., Macdonald K.L., Brown K.L., Mydel P., Collins L.V., Hancock R.E., et al. Enhanced inflammatory responses of chronic granulomatous disease leukocytes involve ROS-independent activation of NF-kappa B. Eur J Immunol 37 (2007) 1087-1096
63. Jackson S.H., Devadas S., Kwon J., Pinto L.A., and Williams M.S. T cells express a phagocyte-type NADPH oxidase that is activated after T cell receptor stimulation. Nat Immunol 5 (2004) 818-827
64. Bleesing J.J., Souto-Carneiro M.M., Savage W.J., Brown M.R., Martinez C., Yavuz S., et al. Patients with chronic granulomatous disease have a reduced peripheral blood memory B cell compartment. J Immunol 176 (2006) 7096-7103
65. George-Chandy A., Nordstrom I., Nygren E., Jonsson I.M., Postigo J., Collins L.V., et al. Th17 development and autoimmune arthritis in the absence of reactive oxygen species. Eur J Immunol 38 (2008) 1118-1126
66. Sanford A.N., Suriano A.R., Herche D., Dietzmann K., and Sullivan K.E. Abnormal apoptosis in chronic granulomatous disease and autoantibody production characteristic of lupus. Rheumatology (Oxford) 45 (2006) 178-181
67. De Ravin S.S., Naumann N., Robinson M.R., Barron K.S., Kleiner D.E., Ulrick J., et al. Sarcoidosis in chronic granulomatous disease. Pediatrics 117 (2006) e590-e595
68. Marciano B.E., Rosenzweig S.D., Kleiner D.E., Anderson V.L., Darnell D.N., Anaya-O'Brien S., et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics 114 (2004) 462-468
69. Lee B.W., and Yap H.K. Polyarthritis resembling juvenile rheumatoid arthritis in a girl with chronic granulomatous disease. Arthritis Rheum 37 (1994) 773-776
70. Cale C.M., Morton L., and Goldblatt D. Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology. Clin Exp Immunol 148 (2007) 79-84
71. Yamazaki-Nakashimada M.A., Ramirez-Vargas N., and De Rubens-Figueroa J. Chronic granulomatous disease associated with atypical Kawasaki disease. Pediatr Cardiol 29 (2008) 169-171
72. Schäppi M., Jaquet V., Belli D., and Krause K.-H. Hyperinflammation in chronic granulomatous disease and anti-inflammatory role of the phagocyte NADPH oxidase. Semin Immunopathol 30 (2008) 255-271
73. Notarangelo L.D., Miao C.H., and Ochs H.D. Wiskott-Aldrich syndrome. Curr Opin Hematol 15 (2008) 30-36
74. Ochs H.D., and Thrasher A.J. The Wiskott-Aldrich syndrome. J Allergy Clin Immunol 117 (2006) 725-738 [quiz 739]
75. Sullivan K.E., Mullen C.A., Blaese R.M., and Winkelstein J.A. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 125 (1994) 876-885
76. Ozsahin H., Cavazzana-Calvo M., Notarangelo L.D., Schulz A., Thrasher A.J., Mazzolari E., et al. Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for blood and marrow transplantation. Blood 111 (2008) 439-445
77. Villa A., Notarangelo L., Macchi P., Mantuano E., Cavagni G., Brugnoni D., et al. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 9 (1995) 414-417
78. Jin Y., Mazza C., Christie J.R., Giliani S., Fiorini M., Mella P., et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood 104 (2004) 4010-4019
79. Adriani M., Aoki J., Horai R., Thornton A.M., Konno A., Kirby M., et al. Impaired in vitro regulatory T cell function associated with Wiskott-Aldrich syndrome. Clin Immunol 124 (2007) 41-48
80. Takenawa T., and Suetsugu S. The WASP-WAVE protein network: connecting the membrane to the cytoskeleton. Nat Rev Mol Cell Biol 8 (2007) 37-48
81. Dupuis-Girod S., Medioni J., Haddad E., Quartier P., Cavazzana-Calvo M., Le Deist F., et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics 111 (2003) e622-e627
82. Schurman S.H., and Candotti F. Autoimmunity in Wiskott-Aldrich syndrome. Curr Opin Rheumatol 15 (2003) 446-453
83. Nguyen D.D., Maillard M.H., Cotta-de-Almeida V., Mizoguchi E., Klein C., Fuss I., et al. Lymphocyte-dependent and Th2 cytokine-associated colitis in mice deficient in Wiskott-Aldrich syndrome protein. Gastroenterology 133 (2007) 1188-1197
84. Humblet-Baron S., Sather B., Anover S., Becker-Herman S., Kasprowicz D.J., Khim S., et al. Wiskott-Aldrich Syndrome Protein is required for regulatory T cell homeostasis. J Clin Invest 117 (2007) 407-418
85. Maillard M.H., Cotta-de-Almeida V., Takeshima F., Nguyen D.D., Michetti P., Nagler C., et al. The Wiskott-Aldrich Syndrome Protein is required for the function of CD4(+)CD25(+)Foxp3(+) regulatory T cells. J Exp Med 204 (2007) 381-391
86. Marangoni F., Trifari S., Scaramuzza S., Panaroni C., Martino S., Notarangelo L.D., et al. WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells. J Exp Med 204 (2007) 369-380
87. Moretta A., Bottino C., Parolini S., Moretta L., Biassoni R., and Notarangelo L.D. Cellular and molecular pathogenesis of X-linked lymphoproliferative disease. Curr Opin Allergy Clin Immunol 1 (2001) 513-517
88. Nichols K.E., Ma C.S., Cannons J.L., Schwartzberg P.L., and Tangye S.G. Molecular and cellular pathogenesis of X-linked lymphoproliferative disease. Immunol Rev 203 (2005) 180-199
89. Ma C.S., Nichols K.E., and Tangye S.G. Regulation of cellular and humoral immune responses by the SLAM and SAP families of molecules. Annu Rev Immunol 25 (2007) 337-379
90. Sullivan J.L., and Woda B.A. X-linked lymphoproliferative syndrome. Immunodefic Rev 1 (1989) 325-347
91. Sullivan J.L., Byron K.S., Brewster F.E., Baker S.M., and Ochs H.D. X-linked lymphoproliferative syndrome. Natural history of the immunodeficiency. J Clin Invest 71 (1983) 1765-1778
92. Rigaud S., Fondaneche M.C., Lambert N., Pasquier B., Mateo V., Soulas P., et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 444 (2006) 110-114
93. Veillette A., Dong Z., and Latour S. Consequence of the SLAM-SAP signaling pathway in innate-like and conventional lymphocytes. Immunity 27 (2007) 698-710
94. + B cells harbour the virus in X-linked lymphoproliferative disease patients. Blood (2008)
95. Invernizzi P. The X chromosome in female-predominant autoimmune diseases. Ann N Y Acad Sci 1110 (2007) 57-64
96. Invernizzi P., Pasini S., Selmi C., Miozzo M., and Podda M. Skewing of X chromosome inactivation in autoimmunity. Autoimmunity 41 (2008) 272-277