The crossroads of autoimmunity and immunodeficiency: Lessons from polygenic traits and monogenic defects

Journal of Allergy and Clinical Immunology

Volumn 137, Issue 1, 2016, Pages 3-17

  Grimbacher, Bodo ^a   Warnatz, Klaus ^a   Yong, Patrick F K ^b   Korganow, Anne Sophie ^c   Peter, Hans Hartmut ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b FRIMLEY PARK HOSPITAL   (United Kingdom)

^c UNIVERSITY HOSPITAL OF STRASBOURG   (France)

Author keywords

Autoimmunity; B cells; primary immunodeficiency diseases; T cells

Indexed keywords

ACTIVATION INDUCED CYTIDINE DEAMINASE; COATOMER PROTEIN; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; FC RECEPTOR; INTERFERON; PEPTIDASE; PHOSPHATIDYLINOSITOL 3 KINASE GAMMA; PHOSPHOLIPASE C GAMMA2; PROTEIN KINASE C DELTA; STAT1 PROTEIN; STAT3 PROTEIN; TOLL LIKE RECEPTOR 7; TOLL LIKE RECEPTOR 8; TOLL LIKE RECEPTOR 9; TRIPEPTIDYL PEPTIDASE II; UNCLASSIFIED DRUG;

ANTIGEN ANTIBODY COMPLEX; APOPTOSIS; AUTOIMMUNE DISEASE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; AUTOIMMUNITY; B LYMPHOCYTE; CD25 DEFICIENCY; CLINICAL FEATURE; DIGEORGE SYNDROME; GENE; HUMAN; HUMORAL IMMUNE DEFICIENCY; IMMUNE DEFICIENCY; IMMUNE DYSREGULATION; IMMUNE SYSTEM; LYMPHOCYTE; LYMPHOCYTOPENIA; MONOGENIC DISORDER; MULTIFACTORIAL INHERITANCE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REGULATORY T LYMPHOCYTE; REVIEW; RHEUMATOID ARTHRITIS; SYSTEMIC LUPUS ERYTHEMATOSUS; ANIMAL; GENETIC PREDISPOSITION; GENETICS;

ANIMALS; AUTOIMMUNE DISEASES; AUTOIMMUNITY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MULTIFACTORIAL INHERITANCE;

EID: 84953409202     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2015.11.004     Document Type: Review

References (208)

1. A. Bousfiha, L. Jeddane, W. Al-Herz, F. Ailal, J.L. Casanova, T. Chatila, and et al. The 2015 IUIS phenotypic classification for primary immunodeficiencies J Clin Immunol 35 2015 727 738
2. U. Salzer, C. Bacchelli, S. Buckridge, Q. Pan-Hammarstrom, S. Jennings, V. Lougaris, and et al. Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes Blood 113 2009 1967 1976
3. L. Zhang, L. Radigan, U. Salzer, T.W. Behrens, B. Grimbacher, G. Diaz, and et al. Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes J Allergy Clin Immunol 120 2007 1178 1185
4. K. Warnatz, and R.E. Voll Pathogenesis of autoimmunity in common variable immunodeficiency Front Immunol 3 2012 210
5. X. Xiao, Q. Miao, C. Chang, M.E. Gershwin, and X. Ma Common variable immunodeficiency and autoimmunity - an inconvenient truth Autoimmun Rev 13 2014 858 864
6. B. Gathmann, N. Mahlaoui, Ceredih, L. Gerard, E. Oksenhendler, K. Warnatz, and et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency J Allergy Clin Immunol 134 2014 116 126
7. H. Abolhassani, D. Amirkashani, N. Parvaneh, P. Mohammadinejad, B. Gharib, S. Shahinpour, and et al. Autoimmune phenotype in patients with common variable immunodeficiency J Investig Allergol Clin Immunol 23 2013 323 329
8. A.B. Barroeta Seijas, S. Graziani, C. Cancrini, A. Finocchi, S. Ferrari, R. Miniero, and et al. The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood Int J Immunopathol Pharmacol 25 2012 407 414
9. K. Singh, C. Chang, and M.E. Gershwin IgA deficiency and autoimmunity Autoimmun Rev 13 2014 163 177
10. K. Todoric, J.B. Koontz, D. Mattox, and T.K. Tarrant Autoimmunity in immunodeficiency Curr Allergy Asthma Rep 13 2013 361 370
11. Y. Okada, D. Wu, G. Trynka, T. Raj, C. Terao, K. Ikari, and et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery Nature 506 2014 376 381
12. R. Goldbach-Mansky Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1 Clin Exp Immunol 167 2012 391 404
13. I.T. Harley, K.M. Kaufman, C.D. Langefeld, J.B. Harley, and J.A. Kelly Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies Nat Rev Genet 10 2009 285 290
14. D.L. Morris, K.E. Taylor, M.M. Fernando, J. Nititham, M.E. Alarcon-Riquelme, L.F. Barcellos, and et al. Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in Europeans Am J Hum Genet 91 2012 778 793
15. D.L. Morris, M.M. Fernando, K.E. Taylor, S.A. Chung, J. Nititham, M.E. Alarcon-Riquelme, and et al. MHC associations with clinical and autoantibody manifestations in European SLE Genes Immun 15 2014 210 217
16. N.K. Day, H. Geiger, R. McLean, A. Michael, and R.A. Good C2 deficiency. Development of lupus erythematosus J Clin Invest 52 1973 1601 1607
17. T.T. Provost, F.C. Arnett, and M. Reichlin Homozygous C2 deficiency, lupus erythematosus, and anti-Ro (SSA) antibodies Arthritis Rheum 26 1983 1279 1282
18. M. Kirschfink, F. Petry, K. Khirwadkar, R. Wigand, J.P. Kaltwasser, and M. Loos Complete functional C1q deficiency associated with systemic lupus erythematosus (SLE) Clin Exp Immunol 94 1993 267 272
19. B. Namjou, C. Gray-McGuire, A.L. Sestak, G.S. Gilkeson, C.O. Jacob, J.T. Merrill, and et al. Evaluation of C1q genomic region in minority racial groups of lupus Genes Immun 10 2009 517 524
20. K. Hartung, M.P. Baur, R. Coldewey, M. Fricke, J.R. Kalden, H.J. Lakomek, and et al. Major histocompatibility complex haplotypes and complement C4 alleles in systemic lupus erythematosus. Results of a multicenter study J Clin Invest 90 1992 1346 1351
21. M.C. Pickering, M. Botto, P.R. Taylor, P.J. Lachmann, and M.J. Walport Systemic lupus erythematosus, complement deficiency, and apoptosis Adv Immunol 76 2000 227 324
22. A.P. Manderson, M. Botto, and M.J. Walport The role of complement in the development of systemic lupus erythematosus Annu Rev Immunol 22 2004 431 456
23. M. Botto, M. Kirschfink, P. Macor, M.C. Pickering, R. Wurzner, and F. Tedesco Complement in human diseases: lessons from complement deficiencies Mol Immunol 46 2009 2774 2783
24. M.C. Carroll, and D.E. Isenman Regulation of humoral immunity by complement Immunity 37 2012 199 207
25. Y. Deng, and B.P. Tsao Advances in lupus genetics and epigenetics Curr Opin Rheumatol 26 2014 482 492
26. J.C. Crispin, S.N. Liossis, K. Kis-Toth, L.A. Lieberman, V.C. Kyttaris, Y.T. Juang, and et al. Pathogenesis of human systemic lupus erythematosus: recent advances Trends Mol Med 16 2010 47 57
27. Y. Ghodke-Puranik, and T.B. Niewold Immunogenetics of systemic lupus erythematosus: a comprehensive review J Autoimmun 64 2015 125 136
28. R. Salloum, and T.B. Niewold Interferon regulatory factors in human lupus pathogenesis Transl Res 157 2011 326 331
29. T. Celhar, and A.M. Fairhurst Toll-like receptors in systemic lupus erythematosus: potential for personalized treatment Front Pharmacol 5 2014 265
30. D.L. Armstrong, A. Reiff, B.L. Myones, F.P. Quismorio Jr., M. Klein-Gitelman, D. McCurdy, and et al. Identification of new SLE-associated genes with a two-step Bayesian study design Genes Immun 10 2009 446 456
31. R.R. Graham, C. Kyogoku, S. Sigurdsson, I.A. Vlasova, L.R. Davies, E.C. Baechler, and et al. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus Proc Natl Acad Sci U S A 104 2007 6758 6763
32. T.B. Niewold, J.A. Kelly, S.N. Kariuki, B.S. Franek, A.A. Kumar, K.M. Kaufman, and et al. IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon alpha activity and explain the majority of the genetic association with systemic lupus erythematosus Ann Rheum Dis 71 2012 463 468
33. A. Hellquist, T.M. Jarvinen, S. Koskenmies, M. Zucchelli, C. Orsmark-Pietras, L. Berglind, and et al. Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus J Rheumatol 36 2009 1631 1638
34. B. Namjou, A.L. Sestak, D.L. Armstrong, R. Zidovetzki, J.A. Kelly, N. Jacob, and et al. High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups Arthritis Rheum 60 2009 1085 1095
35. A.K. Abelson, A.M. Delgado-Vega, S.V. Kozyrev, E. Sanchez, R. Velazquez-Cruz, N. Eriksson, and et al. STAT4 associates with systemic lupus erythematosus through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk Ann Rheum Dis 68 2009 1746 1753
36. S.N. Kariuki, J.G. Moore, K.A. Kirou, M.K. Crow, T.O. Utset, and T.B. Niewold Age- and gender-specific modulation of serum osteopontin and interferon-alpha by osteopontin genotype in systemic lupus erythematosus Genes Immun 10 2009 487 494
37. C.O. Jacob, J. Zhu, D.L. Armstrong, M. Yan, J. Han, X.J. Zhou, and et al. Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus Proc Natl Acad Sci U S A 106 2009 6256 6261
38. J.I. Healy, R.E. Dolmetsch, L.A. Timmerman, J.G. Cyster, M.L. Thomas, G.R. Crabtree, and et al. Different nuclear signals are activated by the B cell receptor during positive versus negative signaling Immunity 6 1997 419 428
39. A. Niessen, P. Heyder, S. Krienke, N. Blank, L.O. Tykocinski, H.M. Lorenz, and et al. Apoptotic-cell-derived membrane microparticles and IFN-alpha induce an inflammatory immune response J Cell Sci 128 2015 2443 2453
40. N.H. Chang, T.T. Li, J.J. Kim, C. Landolt-Marticorena, P.R. Fortin, D.D. Gladman, and et al. Interferon-alpha induces altered transitional B cell signaling and function in Systemic Lupus Erythematosus J Autoimmun 58 2015 100 110
41. M.A. Lee-Kirsch, M. Gong, D. Chowdhury, L. Senenko, K. Engel, Y.A. Lee, and et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus Nat Genet 39 2007 1065 1067
42. T.B. Niewold Interferon alpha as a primary pathogenic factor in human lupus J Interferon Cytokine Res 31 2011 887 892
43. M.A. Lee-Kirsch, C. Wolf, and C. Gunther Aicardi-Goutieres syndrome: a model disease for systemic autoimmunity Clin Exp Immunol 175 2014 17 24
44. J.E. Molineros, A.K. Maiti, C. Sun, L.L. Looger, S. Han, X. Kim-Howard, and et al. Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production PLoS Genet 9 2013 e1003222
45. C. Shu, X. Li, and P. Li The mechanism of double-stranded DNA sensing through the cGAS-STING pathway Cytokine Growth Factor Rev 25 2014 641 648
46. D. Gao, T. Li, X.D. Li, X. Chen, Q.Z. Li, M. Wight-Carter, and et al. Activation of cyclic GMP-AMP synthase by self-DNA causes autoimmune diseases Proc Natl Acad Sci U S A 112 2015 E5699 E5705
47. E.D. Tang, and C.Y. Wang Single amino acid change in STING leads to constitutive active signaling PLoS One 10 2015 e0120090
48. J. Park, I. Munagala, H. Xu, D. Blankenship, P. Maffucci, D. Chaussabel, and et al. Interferon signature in the blood in inflammatory common variable immune deficiency PLoS One 8 2013 e74893
49. J. Zikherman, M. Hermiston, D. Steiner, K. Hasegawa, A. Chan, and A. Weiss PTPN22 deficiency cooperates with the CD45 E613R allele to break tolerance on a non-autoimmune background J Immunol 182 2009 4093 4106
50. A.M. Delgado-Vega, A.K. Abelson, E. Sanchez, T. Witte, S. D'Alfonso, M. Galeazzi, and et al. Replication of the TNFSF4 (OX40L) promoter region association with systemic lupus erythematosus Genes Immun 10 2009 248 253
51. D.S. Cunninghame Graham, R.R. Graham, H. Manku, A.K. Wong, J.C. Whittaker, P.M. Gaffney, and et al. Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus Nat Genet 40 2008 83 89
52. Y.H. Lee, J.H. Woo, S.J. Choi, J.D. Ji, and G.G. Song Association of programmed cell death 1 polymorphisms and systemic lupus erythematosus: a meta-analysis Lupus 18 2009 9 15
53. Q. Jiao, C. Liu, Z. Yang, Q. Ding, M. Wang, M. Li, and et al. Upregulated PD-1 expression is associated with the development of systemic lupus erythematosus, but not the PD-1.1 allele of the PDCD1 gene Int J Genomics 2014 2014 950903
54. G. Hom, R.R. Graham, B. Modrek, K.E. Taylor, W. Ortmann, S. Garnier, and et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX N Engl J Med 358 2008 900 909
55. R. Lu, G.S. Vidal, J.A. Kelly, A.M. Delgado-Vega, X.K. Howard, S.R. Macwana, and et al. Genetic associations of LYN with systemic lupus erythematosus Genes Immun 10 2009 397 403
56. R.I. Nurieva, Y. Chung, G.J. Martinez, X.O. Yang, S. Tanaka, T.D. Matskevitch, and et al. Bcl6 mediates the development of T follicular helper cells Science 325 2009 1001 1005
57. K. Warnatz, L. Bossaller, U. Salzer, A. Skrabl-Baumgartner, W. Schwinger, M. van der Burg, and et al. Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency Blood 107 2006 3045 3052
58. L. Bossaller, J. Burger, R. Draeger, B. Grimbacher, R. Knoth, A. Plebani, and et al. ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells J Immunol 177 2006 4927 4932
59. J.M. Odegard, B.R. Marks, L.D. DiPlacido, A.C. Poholek, D.H. Kono, C. Dong, and et al. ICOS-dependent extrafollicular helper T cells elicit IgG production via IL-21 in systemic autoimmunity J Exp Med 205 2008 2873 2886
60. B. Grimbacher, A. Hutloff, M. Schlesier, E. Glocker, K. Warnatz, R. Drager, and et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency Nat Immunol 4 2003 261 268
61. C. Jacquemin, N. Schmitt, C. Contin-Bordes, Y. Liu, P. Narayanan, J. Seneschal, and et al. OX40 ligand contributes to human lupus pathogenesis by promoting T follicular helper response Immunity 42 2015 1159 1170
62. J.Y. Choi, J.H. Ho, S.G. Pasoto, V. Bunin, S.T. Kim, S. Carrasco, and et al. Circulating follicular helper-like T cells in systemic lupus erythematosus: association with disease activity Arthritis Rheumatol 67 2015 988 999
63. S. Wang, F. Wen, G.B. Wiley, M.T. Kinter, and P.M. Gaffney An enhancer element harboring variants associated with systemic lupus erythematosus engages the TNFAIP3 promoter to influence A20 expression PLoS Genet 9 2013 e1003750
64. V. Gateva, J.K. Sandling, G. Hom, K.E. Taylor, S.A. Chung, X. Sun, and et al. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus Nat Genet 41 2009 1228 1233
65. H.A. Niederer, M.R. Clatworthy, L.C. Willcocks, and K.G. Smith FcgammaRIIB, FcgammaRIIIB, and systemic lupus erythematosus Ann N Y Acad Sci 1183 2010 69 88
66. L.C. Willcocks, E.J. Carr, H.A. Niederer, T.F. Rayner, T.N. Williams, W. Yang, and et al. A defunctioning polymorphism in FCGR2B is associated with protection against malaria but susceptibility to systemic lupus erythematosus Proc Natl Acad Sci U S A 107 2010 7881 7885
67. H. Enocsson, C. Sjowall, A. Kastbom, T. Skogh, M.L. Eloranta, L. Ronnblom, and et al. Association of serum C-reactive protein levels with lupus disease activity in the absence of measurable interferon-alpha and a C-reactive protein gene variant Arthritis Rheumatol 66 2014 1568 1573
68. B. Rhodes, B.G. Furnrohr, A.L. Roberts, G. Tzircotis, G. Schett, T.D. Spector, and et al. The rs1143679 (R77H) lupus associated variant of ITGAM (CD11b) impairs complement receptor 3 mediated functions in human monocytes Ann Rheum Dis 71 2012 2028 2034
69. A. Belot, and R. Cimaz Monogenic forms of systemic lupus erythematosus: new insights into SLE pathogenesis Pediatr Rheumatol Online J 10 2012 21
70. A. Villa, S. Santagata, F. Bozzi, S. Giliani, A. Frattini, L. Imberti, and et al. Partial V(D)J recombination activity leads to Omenn syndrome Cell 93 1998 885 896
71. A. Villa, V. Marrella, F. Rucci, and L.D. Notarangelo Genetically determined lymphopenia and autoimmune manifestations Curr Opin Immunol 20 2008 318 324
72. T.W. Kuijpers, H. Ijspeert, E.M. van Leeuwen, M.H. Jansen, M.D. Hazenberg, K.C. Weijer, and et al. Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations Blood 117 2011 5892 5896
73. J.P. de Villartay, A. Lim, H. Al-Mousa, S. Dupont, J. Dechanet-Merville, E. Coumau-Gatbois, and et al. A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection J Clin Invest 115 2005 3291 3299
74. C. Schuetz, K. Huck, S. Gudowius, M. Megahed, O. Feyen, B. Hubner, and et al. An immunodeficiency disease with RAG mutations and granulomas N Engl J Med 358 2008 2030 2038
75. S.S. De Ravin, E.W. Cowen, K.A. Zarember, N.L. Whiting-Theobald, D.B. Kuhns, N.G. Sandler, and et al. Hypomorphic Rag mutations can cause destructive midline granulomatous disease Blood 116 2010 1263 1271
76. B. Corneo, D. Moshous, T. Gungor, N. Wulffraat, P. Philippet, F.L. Le Deist, and et al. Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome Blood 97 2001 2772 2776
77. T. Kato, E. Crestani, C. Kamae, K. Honma, T. Yokosuka, T. Ikegawa, and et al. RAG1 deficiency may present clinically as selective IgA deficiency J Clin Immunol 35 2015 280 288
78. E.M. Avila, G. Uzel, A. Hsu, J.D. Milner, M.L. Turner, S. Pittaluga, and et al. Highly variable clinical phenotypes of hypomorphic RAG1 mutations Pediatrics 126 2010 e1248 e1252
79. D. Buchbinder, R. Baker, Y.N. Lee, J. Ravell, Y. Zhang, J. McElwee, and et al. Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders J Clin Immunol 35 2015 119 124
80. P.P. Lee, L. Woodbine, K.C. Gilmour, S. Bibi, C.M. Cale, P.J. Amrolia, and et al. The many faces of Artemis-deficient combined immunodeficiency - two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation Clin Immunol 149 2013 464 474
81. L.A. Henderson, F. Frugoni, G. Hopkins, H. de Boer, S.Y. Pai, Y.N. Lee, and et al. Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity J Allergy Clin Immunol 132 2013 969 971 e1-2
82. A. Reiff, A.G. Bassuk, J.A. Church, E. Campbell, X. Bing, and P.J. Ferguson Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease J Clin Immunol 33 2013 1289 1292
83. R. Somech, A.J. Simon, A. Lev, I. Dalal, Z. Spirer, I. Goldstein, and et al. Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells J Allergy Clin Immunol 124 2009 793 800
84. P. Cavadini, W. Vermi, F. Facchetti, S. Fontana, S. Nagafuchi, E. Mazzolari, and et al. AIRE deficiency in thymus of 2 patients with Omenn syndrome J Clin Invest 115 2005 728 732
85. M. Kreuzaler, M. Rauch, U. Salzer, J. Birmelin, M. Rizzi, B. Grimbacher, and et al. Soluble BAFF levels inversely correlate with peripheral B cell numbers and the expression of BAFF receptors J Immunol 188 2012 497 503
86. J.E. Walter, F. Rucci, L. Patrizi, M. Recher, S. Regenass, T. Paganini, and et al. Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency J Exp Med 207 2010 1541 1554
87. S. Shah, E. Wu, V.K. Rao, and T.K. Tarrant Autoimmune lymphoproliferative syndrome: an update and review of the literature Curr Allergy Asthma Rep 14 2014 462
88. I. Caminha, T.A. Fleisher, R.L. Hornung, J.K. Dale, J.E. Niemela, S. Price, and et al. Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome J Allergy Clin Immunol 125 2010 946 949.e6
89. J.B. Oliveira, J.J. Bleesing, U. Dianzani, T.A. Fleisher, E.S. Jaffe, M.J. Lenardo, and et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop Blood 116 2010 e35 e40
90. N. Xiang, X.M. Li, G.S. Wang, J.H. Tao, and X.P. Li Association of Fas gene polymorphisms with systemic lupus erythematosus: a meta-analysis Mol Biol Rep 40 2013 407 415
91. B. Neven, A. Magerus-Chatinet, B. Florkin, D. Gobert, O. Lambotte, L. De Somer, and et al. A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation Blood 118 2011 4798 4807
92. A.K. Ryan, J.A. Goodship, D.I. Wilson, N. Philip, A. Levy, H. Seidel, and et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study J Med Genet 34 1997 798 804
93. S. Jyonouchi, D.M. McDonald-McGinn, S. Bale, E.H. Zackai, and K.E. Sullivan CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features Pediatrics 123 2009 e871 e877
94. B.E. Tison, S.K. Nicholas, S.L. Abramson, I.C. Hanson, M.E. Paul, F.O. Seeborg, and et al. Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome J Allergy Clin Immunol 128 2011 1115 1117 e1-3
95. A.F. Jawad, D.M. McDonald-Mcginn, E. Zackai, and K.E. Sullivan Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) J Pediatr 139 2001 715 723
96. A.R. Gennery, D. Barge, J.J. O'Sullivan, T.J. Flood, M. Abinun, and A.J. Cant Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome Arch Dis Child 86 2002 422 425
97. E.G. Davies Immunodeficiency in DiGeorge syndrome and options for treating cases with complete athymia Front Immunol 4 2013 322
98. K.E. Sullivan, D. McDonald-McGinn, and E.H. Zackai CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia Clin Diagn Lab Immunol 9 2002 1129 1131
99. A. Janda, P. Sedlacek, M. Honig, W. Friedrich, M. Champagne, T. Matsumoto, and et al. Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly Blood 116 2010 2229 2236
100. M.L. Markert, A. Boeck, L.P. Hale, A.L. Kloster, T.M. McLaughlin, M.N. Batchvarova, and et al. Transplantation of thymus tissue in complete DiGeorge syndrome N Engl J Med 341 1999 1180 1189
101. K. Nagamine, P. Peterson, H.S. Scott, J. Kudoh, S. Minoshima, M. Heino, and et al. Positional cloning of the APECED gene Nat Genet 17 1997 393 398
102. A.C. Finnish-German An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains Nat Genet 17 1997 399 403
103. J.B. Johnnidis, E.S. Venanzi, D.J. Taxman, J.P. Ting, C.O. Benoist, and D.J. Mathis Chromosomal clustering of genes controlled by the aire transcription factor Proc Natl Acad Sci U S A 102 2005 7233 7238
104. M.S. Anderson, E.S. Venanzi, Z. Chen, S.P. Berzins, C. Benoist, and D. Mathis The cellular mechanism of Aire control of T cell tolerance Immunity 23 2005 227 239
105. J. Li, Y. Li, J.Y. Yao, R. Jin, M.Z. Zhu, X.P. Qian, and et al. Developmental pathway of CD4+CD8- medullary thymocytes during mouse ontogeny and its defect in Aire-/- mice Proc Natl Acad Sci U S A 104 2007 18175 18180
106. Y. Lei, A.M. Ripen, N. Ishimaru, I. Ohigashi, T. Nagasawa, L.T. Jeker, and et al. Aire-dependent production of XCL1 mediates medullary accumulation of thymic dendritic cells and contributes to regulatory T cell development J Exp Med 208 2011 383 394
107. M. Hinterberger, M. Aichinger, O. Prazeres da Costa, D. Voehringer, R. Hoffmann, and L. Klein Autonomous role of medullary thymic epithelial cells in central CD4(+) T cell tolerance Nat Immunol 11 2010 512 519
108. M. Matsumoto, Y. Nishikawa, H. Nishijima, J. Morimoto, M. Matsumoto, and Y. Mouri Which model better fits the role of aire in the establishment of self-tolerance: the transcription model or the maturation model? Front Immunol 4 2013 210
109. A.D. Griesemer, E.C. Sorenson, and M.A. Hardy The role of the thymus in tolerance Transplantation 90 2010 465 474
110. F. Cetani, G. Barbesino, S. Borsari, E. Pardi, L. Cianferotti, A. Pinchera, and et al. A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis J Clin Endocrinol Metab 86 2001 4747 4752
111. B.E. Oftedal, A. Hellesen, M.M. Erichsen, E. Bratland, A. Vardi, J. Perheentupa, and et al. Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases Immunity 42 2015 1185 1196
112. E.S. Husebye, J. Perheentupa, R. Rautemaa, and O. Kampe Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I J Intern Med 265 2009 514 529
113. D. Capalbo, L. De Martino, G. Giardino, R. Di Mase, I. Di Donato, G. Parenti, and et al. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation Int J Endocrinol 2012 2012 353250
114. A. Meloni, N. Willcox, A. Meager, M. Atzeni, A.S. Wolff, E.S. Husebye, and et al. Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients J Clin Endocrinol Metab 97 2012 1114 1124
115. D. Capalbo, A. Elefante, M.I. Spagnuolo, C. Mazza, C. Betterle, C. Pignata, and et al. Posterior reversible encephalopathy syndrome in a child during an accelerated phase of a severe APECED phenotype due to an uncommon mutation of AIRE Clin Endocrinol (Oxf) 69 2008 511 513
116. D. Capalbo, N. Improda, A. Esposito, L. De Martino, F. Barbieri, C. Betterle, and et al. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective J Endocrinol Invest 36 2013 903 912
117. K. Kisand, A.S. Boe Wolff, K.T. Podkrajsek, L. Tserel, M. Link, K.V. Kisand, and et al. Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines J Exp Med 207 2010 299 308
118. A. Puel, R. Doffinger, A. Natividad, M. Chrabieh, G. Barcenas-Morales, C. Picard, and et al. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I J Exp Med 207 2010 291 297
119. T.A. Chatila, F. Blaeser, N. Ho, H.M. Lederman, C. Voulgaropoulos, C. Helms, and 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
120. R.S. Wildin, F. Ramsdell, J. Peake, F. Faravelli, J.L. Casanova, N. Buist, and et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy Nat Genet 27 2001 18 20
121. C.L. Bennett, J. Christie, F. Ramsdell, M.E. Brunkow, P.J. Ferguson, L. Whitesell, and et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 Nat Genet 27 2001 20 21
122. M. Tsuda, T.R. Torgerson, C. Selmi, E. Gambineri, M. Carneiro-Sampaio, S.C. Mannurita, and et al. The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies J Autoimmun 35 2010 265 268
123. S.Z. Josefowicz, L.F. Lu, and A.Y. Rudensky Regulatory T cells: mechanisms of differentiation and function Annu Rev Immunol 30 2012 531 564
124. F. Barzaghi, L. Passerini, and R. Bacchetta Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity Front Immunol 3 2012 211
125. N. Sharfe, H.K. Dadi, M. Shahar, and C.M. Roifman Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor Proc Natl Acad Sci U S A 94 1997 3168 3171
126. A.A. Caudy, S.T. Reddy, T. Chatila, J.P. Atkinson, and J.W. Verbsky 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
127. K. Goudy, D. Aydin, F. Barzaghi, E. Gambineri, M. Vignoli, S. Ciullini Mannurita, and et al. Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity Clin Immunol 146 2013 248 261
128. P. Pandiyan, L. Zheng, S. Ishihara, J. Reed, and M.J. Lenardo CD4+CD25+Foxp3+ regulatory T cells induce cytokine deprivation-mediated apoptosis of effector CD4+ T cells Nat Immunol 8 2007 1353 1362
129. L. Barron, H. Dooms, K.K. Hoyer, W. Kuswanto, J. Hofmann, W.E. O'Gorman, and et al. Cutting edge: mechanisms of IL-2-dependent maintenance of functional regulatory T cells J Immunol 185 2010 6426 6430
130. M. de la Rosa, S. Rutz, H. Dorninger, and A. Scheffold Interleukin-2 is essential for CD4+CD25+ regulatory T cell function Eur J Immunol 34 2004 2480 2488
131. G.C. Furtado, M.A. Curotto de Lafaille, N. Kutchukhidze, and J.J. Lafaille Interleukin 2 signaling is required for CD4(+) regulatory T cell function J Exp Med 196 2002 851 857
132. T.S. Davidson, R.J. DiPaolo, J. Andersson, and E.M. Shevach Cutting edge: IL-2 is essential for TGF-beta-mediated induction of Foxp3+ T regulatory cells J Immunol 178 2007 4022 4026
133. H.S. Kuehn, W. Ouyang, B. Lo, E.K. Deenick, J.E. Niemela, D.T. Avery, and et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4 Science 345 2014 1623 1627
134. D. Schubert, C. Bode, R. Kenefeck, T.Z. Hou, J.B. Wing, A. Kennedy, and et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations Nat Med 20 2014 1410 1416
135. S. Zeissig, B.S. Petersen, M. Tomczak, E. Melum, E. Huc-Claustre, S.K. Dougan, and et al. Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4 Gut 64 2015 1889 1897
136. J.W. Wang, J. Howson, E. Haller, and W.G. Kerr Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins J Immunol 166 2001 4586 4595
137. A. De Lozanne The role of BEACH proteins in dictyostelium Traffic 4 2003 6 12
138. G. Lopez-Herrera, G. Tampella, Q. Pan-Hammarstrom, P. Herholz, C.M. Trujillo-Vargas, K. Phadwal, and et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity Am J Hum Genet 90 2012 986 1001
139. S. Revel-Vilk, U. Fischer, B. Keller, S. Nabhani, L. Gamez-Diaz, A. Rensing-Ehl, and et al. Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation Clin Immunol 159 2015 84 92
140. L.M. Charbonnier, E. Janssen, J. Chou, T.K. Ohsumi, S. Keles, J.T. Hsu, and et al. Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA J Allergy Clin Immunol 135 2015 217 227
141. B. Lo, K. Zhang, W. Lu, L. Zheng, Q. Zhang, C. Kanellopoulou, and et al. Autoimmune disease. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy Science 349 2015 436 440
142. Y.J. Crow, B.E. Hayward, R. Parmar, P. Robins, A. Leitch, M. Ali, and et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus Nat Genet 38 2006 917 920
143. Y.J. Crow, A. Leitch, B.E. Hayward, A. Garner, R. Parmar, E. Griffith, and et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection Nat Genet 38 2006 910 916
144. B. Namjou, P.H. Kothari, J.A. Kelly, S.B. Glenn, J.O. Ojwang, A. Adler, and et al. Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort Genes Immun 12 2011 270 279
145. C. Gunther, B. Kind, M.A. Reijns, N. Berndt, M. Martinez-Bueno, C. Wolf, and et al. Defective removal of ribonucleotides from DNA promotes systemic autoimmunity J Clin Invest 125 2015 413 424
146. K.B. Elkon, and V.V. Stone Type I interferon and systemic lupus erythematosus J Interferon Cytokine Res 31 2011 803 812
147. M. Fredi, M. Bianchi, L. Andreoli, G. Greco, I. Olivieri, S. Orcesi, and et al. Typing TREX1 gene in patients with systemic lupus erythematosus Reumatismo 67 2015 1 7
148. D.B. Stetson, J.S. Ko, T. Heidmann, and R. Medzhitov Trex1 prevents cell-intrinsic initiation of autoimmunity Cell 134 2008 587 598
149. K. Yasutomo, T. Horiuchi, S. Kagami, H. Tsukamoto, C. Hashimura, M. Urushihara, and et al. Mutation of DNASE1 in people with systemic lupus erythematosus Nat Genet 28 2001 313 314
150. K. Sallai, E. Nagy, B. Derfalvy, G. Muzes, and P. Gergely Antinucleosome antibodies and decreased deoxyribonuclease activity in sera of patients with systemic lupus erythematosus Clin Diagn Lab Immunol 12 2005 56 59
151. S.M. Al-Mayouf, A. Sunker, R. Abdwani, S.A. Abrawi, F. Almurshedi, N. Alhashmi, and et al. Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus Nat Genet 43 2011 1186 1188
152. A. Goncalves, E. Karayel, G.I. Rice, K.L. Bennett, Y.J. Crow, G. Superti-Furga, and et al. SAMHD1 is a nucleic-acid binding protein that is mislocalized due to Aicardi-Goutieres syndrome-associated mutations Hum Mutat 33 2012 1116 1122
153. N. Beloglazova, R. Flick, A. Tchigvintsev, G. Brown, A. Popovic, B. Nocek, and et al. Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction J Biol Chem 288 2013 8101 8110
154. T.A. Briggs, G.I. Rice, S. Daly, J. Urquhart, H. Gornall, B. Bader-Meunier, and et al. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature Nat Genet 43 2011 127 131
155. E. Lausch, A. Janecke, M. Bros, S. Trojandt, Y. Alanay, C. De Laet, and et al. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity Nat Genet 43 2011 132 137
156. M.A. Lee-Kirsch, D. Chowdhury, S. Harvey, M. Gong, L. Senenko, K. Engel, and et al. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus J Mol Med (Berl) 85 2007 531 537
157. S. Dupuis, C. Dargemont, C. Fieschi, N. Thomassin, S. Rosenzweig, J. Harris, and et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation Science 293 2001 300 303
158. M. Tsumura, S. Okada, H. Sakai, S. Yasunaga, M. Ohtsubo, T. Murata, and et al. Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease Hum Mutat 33 2012 1377 1387
159. S. Dupuis, E. Jouanguy, S. Al-Hajjar, C. Fieschi, I.Z. Al-Mohsen, S. Al-Jumaah, and et al. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency Nat Genet 33 2003 388 391
160. X.F. Kong, M. Ciancanelli, S. Al-Hajjar, L. Alsina, T. Zumwalt, J. Bustamante, and et al. A novel form of human STAT1 deficiency impairing early but not late responses to interferons Blood 116 2010 5895 5906
161. F.L. van de Veerdonk, T.S. Plantinga, A. Hoischen, S.P. Smeekens, L.A. Joosten, C. Gilissen, and et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis N Engl J Med 365 2011 54 61
162. L. Liu, S. Okada, X.F. Kong, A.Y. Kreins, S. Cypowyj, A. Abhyankar, and et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis J Exp Med 208 2011 1635 1648
163. B. Soltesz, B. Toth, N. Shabashova, A. Bondarenko, S. Okada, S. Cypowyj, and et al. New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe J Med Genet 50 2013 567 578
164. G. Uzel, E.P. Sampaio, M.G. Lawrence, A.P. Hsu, M. Hackett, M.J. Dorsey, and et al. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome J Allergy Clin Immunol 131 2013 1611 1623
165. E.P. Sampaio, A.P. Hsu, J. Pechacek, H.I. Bax, D.L. Dias, M.L. Paulson, and et al. Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis J Allergy Clin Immunol 131 2013 1624 1634
166. S.M. Holland, F.R. DeLeo, H.Z. Elloumi, A.P. Hsu, G. Uzel, N. Brodsky, and et al. STAT3 mutations in the hyper-IgE syndrome N Engl J Med 357 2007 1608 1619
167. Y. Minegishi, M. Saito, S. Tsuchiya, I. Tsuge, H. Takada, T. Hara, and et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome Nature 448 2007 1058 1062
168. S.E. Flanagan, E. Haapaniemi, M.A. Russell, R. Caswell, H. Lango Allen, E. De Franco, and et al. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease Nat Genet 46 2014 812 814
169. J.D. Milner, T.P. Vogel, L. Forbes, C.A. Ma, A. Stray-Pedersen, J.E. Niemela, and et al. Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations Blood 125 2015 591 599
170. H.L. Koskela, S. Eldfors, P. Ellonen, A.J. van Adrichem, H. Kuusanmaki, E.I. Andersson, and et al. Somatic STAT3 mutations in large granular lymphocytic leukemia N Engl J Med 366 2012 1905 1913
171. A. Jerez, M.J. Clemente, H. Makishima, H. Rajala, I. Gomez-Segui, T. Olson, and et al. STAT3 mutations indicate the presence of subclinical T-cell clones in a subset of aplastic anemia and myelodysplastic syndrome patients Blood 122 2013 2453 2459
172. L. Truedsson, A.A. Bengtsson, and G. Sturfelt Complement deficiencies and systemic lupus erythematosus Autoimmunity 40 2007 560 566
173. R. Aggarwal, A.L. Sestak, A. D'Sousa, S.P. Dillon, B. Namjou, and R.H. Scofield Complete complement deficiency in a large cohort of familial systemic lupus erythematosus Lupus 19 2010 52 57
174. S.M. Al-Mayouf, H. Abanomi, and A. Eldali Impact of C1q deficiency on the severity and outcome of childhood systemic lupus erythematosus Int J Rheum Dis 14 2011 81 85
175. M.C. Carroll The role of complement in B cell activation and tolerance Adv Immunol 74 2000 61 88
176. C.A. Alper, H.R. Colten, F.S. Rosen, A.R. Rabson, G.M. Macnab, and J.S. Gear Homozygous deficiency of C3 in a patient with repeated infections Lancet 2 1972 1179 1181
177. M. Ballow, J.E. Shira, L. Harden, S.Y. Yang, and N.K. Day Complete absence of the third component of complement in man J Clin Invest 56 1975 703 710
178. D.G. Palmer Complement and the clinician Aust N Z J Med 6 1976 349 356
179. H.A. Niederer, L.C. Willcocks, T.F. Rayner, W. Yang, Y.L. Lau, T.N. Williams, and et al. Copy number, linkage disequilibrium and disease association in the FCGR locus Hum Mol Genet 19 2010 3282 3294
180. S. Han, X. Kim-Howard, H. Deshmukh, Y. Kamatani, P. Viswanathan, J.M. Guthridge, and et al. Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE) Hum Mol Genet 18 2009 1171 1180
181. D.J. Todd, A.H. Lee, and L.H. Glimcher The endoplasmic reticulum stress response in immunity and autoimmunity Nat Rev Immunol 8 2008 663 674
182. S.Z. Hasnain, R. Lourie, I. Das, A.C. Chen, and M.A. McGuckin The interplay between endoplasmic reticulum stress and inflammation Immunol Cell Biol 90 2012 260 270
183. H. Tanjore, T.S. Blackwell, and W.E. Lawson Emerging evidence for endoplasmic reticulum stress in the pathogenesis of idiopathic pulmonary fibrosis Am J Physiol Lung Cell Mol Physiol 302 2012 L721 L729
184. M.C. Wheeler, M. Rizzi, R. Sasik, G. Almanza, G. Hardiman, and M. Zanetti KDEL-retained antigen in B lymphocytes induces a proinflammatory response: a possible role for endoplasmic reticulum stress in adaptive T cell immunity J Immunol 181 2008 256 264
185. S. Glatigny, I. Fert, M.A. Blaton, R.J. Lories, L.M. Araujo, G. Chiocchia, and et al. Proinflammatory Th17 cells are expanded and induced by dendritic cells in spondylarthritis-prone HLA-B27-transgenic rats Arthritis Rheum 64 2012 110 120
186. M.L. DeLay, M.J. Turner, E.I. Klenk, J.A. Smith, D.P. Sowders, and R.A. Colbert HLA-B27 misfolding and the unfolded protein response augment interleukin-23 production and are associated with Th17 activation in transgenic rats Arthritis Rheum 60 2009 2633 2643
187. J.C. Goodall, C. Wu, Y. Zhang, L. McNeill, L. Ellis, V. Saudek, and et al. Endoplasmic reticulum stress-induced transcription factor, CHOP, is crucial for dendritic cell IL-23 expression Proc Natl Acad Sci U S A 107 2010 17698 17703
188. P. Stepensky, A. Rensing-Ehl, R. Gather, S. Revel-Vilk, U. Fischer, S. Nabhani, and et al. Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency Blood 125 2015 753 761
189. W. Lu, Y. Zhang, D.O. McDonald, H. Jing, B. Carroll, N. Robertson, and et al. Dual proteolytic pathways govern glycolysis and immune competence Cell 159 2014 1578 1590
190. I. Angulo, O. Vadas, F. Garcon, E. Banham-Hall, V. Plagnol, T.R. Leahy, and et al. Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage Science 342 2013 866 871
191. C.L. Lucas, H.S. Kuehn, F. Zhao, J.E. Niemela, E.K. Deenick, U. Palendira, and et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiency Nat Immunol 15 2014 88 97
192. C.L. Lucas, Y. Zhang, A. Venida, Y. Wang, J. Hughes, J. McElwee, and et al. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K J Exp Med 211 2014 2537 2547
193. M.C. Deau, L. Heurtier, P. Frange, F. Suarez, C. Bole-Feysot, P. Nitschke, and et al. A human immunodeficiency caused by mutations in the PIK3R1 gene J Clin Invest 125 2015 1764 1765
194. M.J. Ombrello, E.F. Remmers, G. Sun, A.F. Freeman, S. Datta, P. Torabi-Parizi, and et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions N Engl J Med 366 2012 330 338
195. Q. Zhou, G.S. Lee, J. Brady, S. Datta, M. Katan, A. Sheikh, and et al. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency Am J Hum Genet 91 2012 713 720
196. E. Salzer, E. Santos-Valente, S. Klaver, S.A. Ban, W. Emminger, N.K. Prengemann, and et al. B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C delta Blood 121 2013 3112 3116
197. H.S. Kuehn, J.E. Niemela, A. Rangel-Santos, M. Zhang, S. Pittaluga, J.L. Stoddard, and et al. Loss-of-function of the protein kinase C delta (PKCdelta) causes a B-cell lymphoproliferative syndrome in humans Blood 121 2013 3117 3125
198. A. Belot, P.R. Kasher, E.W. Trotter, A.P. Foray, A.L. Debaud, G.I. Rice, and et al. Protein kinase cdelta deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation Arthritis Rheum 65 2013 2161 2171
199. I. Mecklenbrauker, K. Saijo, N.Y. Zheng, M. Leitges, and A. Tarakhovsky Protein kinase Cdelta controls self-antigen-induced B-cell tolerance Nature 416 2002 860 865
200. A. Durandy, T. Cantaert, S. Kracker, and E. Meffre Potential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humans Autoimmunity 46 2013 148 156
201. G. Meyers, Y.S. Ng, J.M. Bannock, A. Lavoie, J.E. Walter, L.D. Notarangelo, and et al. Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans Proc Natl Acad Sci U S A 108 2011 11554 11559
202. F. Mackay, S.A. Woodcock, P. Lawton, C. Ambrose, M. Baetscher, P. Schneider, and et al. Mice transgenic for BAFF develop lymphocytic disorders along with autoimmune manifestations J Exp Med 190 1999 1697 1710
203. H. Qin, K. Suzuki, M. Nakata, S. Chikuma, N. Izumi, T. Huong le, and et al. Activation-induced cytidine deaminase expression in CD4+ T cells is associated with a unique IL-10-producing subset that increases with age PLoS One 6 2011 e29141
204. N. Romberg, N. Chamberlain, D. Saadoun, M. Gentile, T. Kinnunen, Y.S. Ng, and et al. CVID-associated TACI mutations affect autoreactive B cell selection and activation J Clin Invest 123 2013 4283 4293
205. K.R. Engelhardt, S. McGhee, S. Winkler, A. Sassi, C. Woellner, G. Lopez-Herrera, and et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome J Allergy Clin Immunol 124 2009 1289 1302.e4
206. W. Al-Herz, R. Ragupathy, M.J. Massaad, R. Al-Attiyah, A. Nanda, K.R. Engelhardt, and et al. Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait Clin Immunol 143 2012 266 272
207. Z. Alsum, A. Hawwari, O. Alsmadi, S. Al-Hissi, E. Borrero, A. Abu-Staiteh, and et al. Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients J Clin Immunol 33 2013 55 67
208. E. Janssen, H. Morbach, S. Ullas, J.M. Bannock, C. Massad, L. Menard, and et al. Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells J Allergy Clin Immunol 134 2014 1365 1374