Human primary immunodeficiency diseases: A perspective

Nature Immunology

Volumn 5, Issue 1, 2004, Pages 23-30

  Fischer, Alain ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHEMOKINE RECEPTOR CXCR4; IMMUNOGLOBULIN;

AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; B LYMPHOCYTE; CELL MATURATION; ENZYME ACTIVATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC CODE; GENETIC LINKAGE; HOMEOSTASIS; HUMAN; IMMUNE DEFICIENCY; IMMUNE SYSTEM; IMMUNOPATHOLOGY; INFECTION SENSITIVITY; LYMPHOCYTOTOXICITY; PAPILLOMA VIRUS; PRIMARY IMMUNE RESPONSE; PRIORITY JOURNAL; REGULATORY MECHANISM; REVIEW; STREPTOCOCCUS PNEUMONIAE;

CYTIDINE DEAMINASE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOGLOBULIN CLASS SWITCHING; IMMUNOLOGIC DEFICIENCY SYNDROMES; PAPILLOMAVIRUS INFECTIONS; PNEUMOCOCCAL INFECTIONS; POLYENDOCRINOPATHIES, AUTOIMMUNE; SOMATIC HYPERMUTATION, IMMUNOGLOBULIN; TUMOR VIRUS INFECTIONS;

EID: 0345865076     PISSN: 15292908     EISSN: None     Source Type: Journal    
DOI: 10.1038/ni1023     Document Type: Review

References (102)

1. Chapel, H., Geha, R. & Rosen, F. Primary immunodeficiency diseases: an update. Clin. Exp. Immunol. 132, 9-15 (2003).
2. Fischer, A. Primary immunodeficiency diseases: an experimental model for molecular medicine. Lancet 357, 1863-1869 (2001).
3. Buckley, R.H. Advances in immunology: primary Immunodeficiency diseases due to defects in lymphocytes. N. Engl. J. Med. 343, 1313-1324 (2000).
4. Bruton, O.C., Apt, L., Gitlin, D. & Janeway, C.A. Absence of serum gammaglobulins. AMA Am. J. Dis. Child 84, 632-636 (1952).
5. Good, R.A. Cellular immunology in a historical perspective. Immunol. Rev. 185, 136-158 (2002).
6. Person, R.E. et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat. Genet. 34, 308-312 (2003).
7. Boocock, G.R. et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat. Genet. 33, 97-101 (2003).
8. Stengaard-Pedersen, K. et al. Inherited deficiency of mannan-binding lectin-associated serine protease 2. N. Engl. J. Med. 349, 554-560 (2003).
9. Picard, C. et al. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 299, 2076-2079 (2003).
10. Medvedev, A.E. at al. Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. J. Exp. Med. 198, 521-531 (2003).
11. Dupuis, S. et al. Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency. Nat Genet 33, 388-391 (2003).
12. Grimbacher, B. et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat. Immunol. 4, 261-268 (2003).
13. Imai, K. et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat. Immunol. 4, 1023-1028 (2003).
14. Dadi, H., Simon, A.J. & Roifman, C.M. Effect of CD3delta deficiency on maturation of αβ and γδ T-cell lineages in severe combined immunodeficiency. N. Engl. J. Med. 349, 1821-1828 (2003).
15. Kofoed, E.M. et al. Growth hormone insensitivity associated with a STAT5b mutation. N. Engl. J. Med. 349, 1139-1147 (2003).
16. Courtois, G. et al. A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J. Clin. Invest. 112, 1108-1115 (2003).
17. Feldmann, J. et al. Munc 13-4 is essential for fusion competence of cytolytic granules and its defect causes a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell 115, 461-73 (2003).
18. Ramoz, N. et al. Mutations in two adjacent novel genes are associated with epider-modysplasia verruciformis. Nat. Genet. 32, 579-581 (2002).
19. Hernandez, P.A. et al. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat. Genet. 34, 70-74 (2003).
20. Conley, M.E., Rohrer, J., Rapalus, L., Boylin, E.C. & Minegishi, Y. Defects in early B-cell development: comparing the consequences of abnormalities in pre-BCR signaling in the human and the mouse. Immunol. Rev. 178, 75-90 (2000).
21. Notarangelo, L.D. & Hayward, A.R. X-linked immunodeficiency with hyper-IgM (XHIM). Clin. Exp. Immunol. 120, 399-405 (2000).
22. Ferrari, S. et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc. Natl. Acad. Sci. USA 98, 12614-12619 (2001).
23. Muramatsu, M. et al. Specific expression of activation-induced cytidine deaminase (AID), a novel member of the RNA-editing deaminase family in germinal center B cells. J. Biol. Chem. 274, 18470-18476 (1999).
24. Revy, P. et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2). Cell 102, 565-575 (2000).
25. Muramatsu, M. et al. Class switch recombination and somatic hypermutation require activation-induced cytidine deaminase (AID), a member of RNA editing cytidine deaminase family. Cell 102, 553-563 (2000).
26. Honjo, T., Kinoshita, K. & Muramatsu, M. Molecular mechanism of class switch recombination: linkage with somatic hypermutation. Annu. Rev, Immunol. 20, 165-196 (2002).
27. Petersen-Mahrt, S.K., Harris, R.S. & Neuberger, M.S. AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification. Nature 418, 99-104 (2002).
28. Chaudhuri, J. et al. Transcription-targeted DNA deamination by the AID antibody diversification enzyme. Nature 422, 726-730 (2003).
29. Pham, P., Bransteitter, R., Petruska, J. & Goodman, M.F. Processive AID-catalysed cytosine deamination on single-stranded DNA simulates somatic hypermutation. Nature 424, 103-107 (2003).
30. Ramiro, A.R., Stavropoulos, P., Jankovic, M. & Nussenzweig, M.C. Transcription enhances AID-mediated cytidine deamination by exposing single-stranded DNA on the nontemplate strand. Nat. Immunol. 4, 452-456 (2003).
31. Dickerson, S.K., Market, E., Besmer, E. & Papavasiliou, F.N. AID mediates hypermutation by deaminating single stranded DNA. J. Exp. Med. 197, 1291-1296 (2003).
32. Rada, C. et al. Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient mice. Curr. Biol. 12, 1748-1755 (2002).
33. Ta, V.T. et al. AID mutant analyses indicate requirement for class-switch-specific cofactors. Nat. Immunol. 4, 843-848 (2003).
34. Barreto, V., Reina-San-Martin, B., Ramiro, A.R., McBride, K.M. & Nussenzweig, M. C-terminal deletion of AID uncouples class switch recombination from somatic hypermutation and gene conversion. Cell 12, 501-508 (2003).
35. Imai, K. et al. Hyper-IgM syndrome type 4 with a B-lymphocyte intrinsic selective deficiency in immunoglobulin class switch recombination. J. Clin. Invest. 112, 136-142 (2003).
36. Kenter, A.L. Class-switch recombination: after the dawn of AID. Curr. Opin. Immunol. 15, 190-198 (2003).
37. Manis, J.P. & Alt, F.W. Novel antibody switching defects in human patients. J. Clin. Invest. 112, 19-22 (2003).
38. Bassing, C.H. et al. Increased ionizing radiation sensitivity and genomic instability in the absence of histone H2AX. Proc. Natl. Acad. Sci. USA 99, 8173-8178 (2002).
39. Celeste, A. et al. Genomic instability in mice lacking histone H2AX. Science 296, 922-927 (2002).
40. Harada, Y., Muramatsu, M., Shibata, T., Honjo, T. & Kuroda, K. Unmutated immunoglobulin M can protect mice from death by influenza virus infection. J. Exp. Med. 197, 1779-1785 (2003).
41. Frazer, I.H. et al. Potential strategies utilised by papillomavirus to evade host immunity. Immunol. Rev. 168, 131-142 (1999).
42. + dendritic cells but not by Langerhans cells. Science 301, 1925-1928 (2003).
43. Zinkernagel, R.M. On differences between immunity and immunological memory. Curr. Opin. Immunol. 14, 523-536 (2002).
44. Hemmi, H. et al. Small anti-viral compounds activate immune cells via the TLR7 MyD88-dependent signaling pathway. Nat. Immunol. 3, 196-200 (2002).
45. Cooper, K.D., Androphy, E.J., Lowy, D. & Katz, S.I. Antigen presentation and T-cell activation in epidermodysplasia verruciformis. J. Invest. Dermatol. 94, 769-776 (1990).
46. Gorlin, R.J. et al. WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. Am. J. Med. Genet. 91, 368-376 (2000).
47. Chae, K.M., Ertle, J.O. & Tharp, M.D. B-cell lymphoma in a patient with WHIM syndrome. J. Am. Acad. Dermatol. 44, 124-128 (2001).
48. Casal, J. & Tarrago, D. Immunity to Streptococcus pneumoniae: factors affecting production and efficacy. Curr. Opin. Infect. Dis. 16, 219-224 (2003).
49. Roy, S. et al. MBL genotype and risk of invasive pneumococcal disease: a case-control study. Lancet 359, 1569-1573 (2002).
50. Zonana, J. 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-γ (NEMO). Am. J. Hum. Genet 67, 1555-1562 (2000).
51. Doffinger, R. et al. X-linked ectodermal dysplasia anhydrotic and immunodeficiency is caused by hypo-functional NEMO mutations. Nat. Genet. 27, 277-285 (2001).
52. Jain, A. et al. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat. Immunol. 2, 223-228 (2001).
53. Li, Q. & Verma, I.M. NF-κB regulation in the immune system. Nat. Rev. Immunol. 2, 725-734 (2002).
54. Suzuki, N., Suzuki, S. & Yeh, W.C. IRAK-4 as the central TIR signaling mediator in innate immunity. Trends Immunol. 23, 503-506 (2002).
55. Pasparakis, M., Schmidt-Supprian, M. & Rajewsky, K. IκB kinase signaling is essential for maintenance of mature B cells. J. Exp. Med. 196, 743-752 (2002).
56. Kim, S. et al. The role of nuclear factor-B essential modulator (NEMO) in B cell development and survival. Proc. Natl. Acad. Sci. USA 100, 1203-1208 (2003).
57. Pomerantz, J.L. & Baltimore, D. Two pathways to NF-κB. Mol. Cell 10, 693-695 (2002).
58. Hull, K.M., Shoham, N., Chae, J.J., Aksentijevich, I. & Kastner, D.L. The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Curr. Opin. Rheumatol. 15, 61-69 (2003).
59. Catalfamo, M. & Henkart, P.A. Perforin and the granule exocytosis cytotoxicity pathway. Curr. Opin. Immunol. 15, 522-527 (2003).
60. Nagata, S. Fas ligand-induced apoptosis. Annu. Rev. Genet. 33, 29-55 (1999).
61. de Saint Basile, G. & Fischer, A. The role of cytotoxicity in lymphocyte homeostasis. Curr. Opin. Immunol. 13, 549-554 (2001).
62. Henter, J.I., Arico, M., Elinder, G., Imashuku, S. & Janka, G. Familial hemophagocytic lymphohistiocytosis. Primary hemophagocytic lymphohistiocytosis. Hematol. Oncol. Clin. North. Am. 12, 417-433 (1998).
63. Stepp, S.E. et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 286, 1957-1959 (1999).
64. Ménasché, G. et al. Mutations in RAB27A cause Griscelli syndrome associated with hemophagocytic syndrome. Nat. Genet. 25, 173-176 (2000).
65. Clark, R. & Griffiths, G.M. Lytic granules, secretory lysosomes and disease. Curr. Opin. Immunol. 15, 516-521 (2003).
66. Tchernev, V.T. et al. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. Mol. Med. 8, 56-64 (2002).
67. Fadeel, B., Orrenius, S. & Henter, J.I. Induction of apoptosis and caspase activation in cells obtained from familial haemophagocytic lymphohistiocytosis patients. Br. J. Haematol. 106, 406-415 (1999).
68. Van Parijs, L. & Abbas, A.K. Homeostasis and self-tolerance in the immune system: turning lymphocytes off. Science 280, 243-248 (1998).
69. + T cells after infection. Nat. Immunol. 3, 619-626 (2002).
70. Matloubian, M. et al. A role for perforin in downregulating T-cell responses during chronic viral infection. J. Virol. 73, 2527-2536 (1999).
71. Huang, J.F. et al. TCR-Mediated internalization of peptide-MHC complexes acquired by T cells. Science 286, 952-954 (1999).
72. + T lymphocytes naturally infected with human T cell lymphotropic virus type I. Immunity 13, 657-664 (2000).
73. Landman-Parker, J., Le Deist, F., Blaise, A., Brison, O. & Fischer, A. Partial engraftment of donor bone marrow cells associated with long-term remission of haemophagocytic lymphohistiocytosis. Br. J. Haematol. 85, 37-41 (1993).
74. Rieux-Laucat, F. et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 268, 1347-1349 (1995).
75. Fisher, G.H. et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 81, 935-946 (1995).
76. Wang, J. et al. Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell 98, 47-58 (1999).
77. + T cell expansion and mortality in vaccinated perforin-deficient mice. Immunity 18, 463-474 (2003).
78. Rathmell, J.C. & Goodnow, C.C. Autoimmunity. The Fas track. Curr. Biol. 5, 1218-1221 (1995).
79. Bjorses, P., Aaltonen, J., Horelli-Kuitunen, N., Yaspo, M. L. & Peltonen, L. Gene defect behind APECED: a new clue to autoimmunity. Hum. Mol. Genet. 7, 1547-1553 (1998).
80. The Finnish-German APECED Consortium. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat. Genet. 17, 349-403 (1997).
81. Ramsey, C. et al. Aire deficient mice develop multiple features of APECED phenotype and show altered immune response. Hum. Mol. Genet. 11, 397-409 (2002).
82. Anderson, M.S. et al. Projection of an immunological self shadow within the thymus by the aire protein. Science 298, 1395-1401 (2002).
83. Gambineri, E., Torgerson, T.R. & Ochs, H.D. Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. Curr. Opin. Rheumatol. 15, 430-435 (2003).
84. Liston, A., Lesage, S., Wilson, J., Peltonen, L. & Goodnow, C.C. Aire regulates negative selection of organ-specific T cells. Nat. Immunol. 4, 350-354 (2003).
85. Chin, R.K. et al. Lymphotoxin pathway directs thymic Aire expression. Nat. Immunol. 4, 1121-1127 (2003).
86. Notarangelo, L.D., Villa, A. & Schwarz, K. RAG and RAG defects. Curr. Opin. Immunol. 11, 435-442 (1999).
87. Bennett, C.L. et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat. Genet. 27, 20-21 (2001).
88. Wildin, R.S. et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat. Genet. 27, 18-20 (2001).
89. Hori, S. Control of regulatory T cell development by the transcription factor Foxp3. Science 299, 1057-1061 (2003).
90. Brunkow, M.E. et al. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nat. Genet. 27, 68-73 (2001).
91. + regulatory T cells. Nat. Immunol. 4, 330-336 (2003).
92. + T regulatory cells. Nat. Immunol. 4, 337-342 (2003).
93. Tommasini, A. et al. X-chromosome inactivation analysis in a female carrier of FOXP3 mutation. Clin. Exp. Immunol. 130, 127-130 (2002).
94. Baud, O. et al. Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. N. Engl. J. Med. 344, 1758-1762 (2001).
95. von Boehmer, H. Dynamics of suppressor T cells: in vivo veritas. J. Exp. Med. 198, 845-849 (2003).
96. Casanova, J.L. & Abel, L. Genetic dissection of immunity to mycobacteria: the human model. Annu. Rev. Immunol. 20, 581-620 (2002).
97. Dai, Y. et al. Nonhomologous end joining and V(D)J recombination require an additional factor. Proc. Natl. Acad. Sci. USA 100, 2462-2467 (2003).
98. Moshous, D. et al. Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. J. Clin. Invest. 111, 381-387 (2003).
99. Layer, K. et al. Autoimmunity as the consequence of a spontaneous mutation in Rasgrp1. Immunity 19, 243-255 (2003).
100. Foster, C.B. et al. Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease. J. Clin. Invest. 102, 2146-2155 (1998).
101. Loy, A.L. & Goodnow, C.C. Novel approaches for identifying genes regulating lymphocyte development and function. Curr. Opin. Immunol. 14, 260-265 (2002).
102. Paloneva, J. et al. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat. Genet. 25, 357-361 (2000).