Abstract
Autoimmunity is frequently observed in patients with primary immune deficiency disorders. Monogenic autoimmune diseases include a group of disorders with characteristic autoimmunity and immune deficiency for which single gene defects have been identified. Currently recognized monogenic autoimmune diseases include autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy, immunodysregulation polyendocrinopathy enteropathy and X-linked inheritance syndrome, autoimmune lymphoproliferative syndrome, and interleukin-2 receptor alpha-chain deficiency. These diseases offer important insights into the mechanisms of central and peripheral immune tolerance and the pathogenesis of defects in these mechanisms.
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Ulmanen I, Halonen M, Ilmarinen T, Peltonen L (2005) Curr Opin Immunol 17:609–615
Zlotogora J, Shapiro MS (1992) J Med Genet 29:824–826
Rosatelli MC, Meloni A, Meloni A et al (1998) Hum Genet 103:428–434
Ahonen P, Myllarniemi S, Sipila I, Perheentupa J (1990) N Engl J Med 322:1829–1836
Perheentupa J (2006) J Clin Endocrinol Metab 91:2843–2850
Halonen M, Eskelin P, Myhre AG et al (2002) J Clin Endocrinol Metab 87:2568–2574
Gylling M, Kaariainen E, Vaisanen R et al (2003) J Clin Endocrinol Metab 88:4602–4608
Soderbergh A, Myhre AG, Ekwall O et al (2004) J Clin Endocrinol Metab 89:557–562
Gylling M, Tuomi T, Bjorses P et al (2000) J Clin Endocrinol Metab 85:4434–4440
Hedstrand H, Ekwall O, Olsson MJ et al (2001) J Biol Chem 276:35390–35395
Nagamine K, Peterson P, Scott HS et al (1997) Nat Genet 17:393–398
Aaltonen J, Björses P, Perheentupa J, Horelli-Kuitunen N, Palotie A, Su Lee Y, Francis F, Henning S, Thiel C, Lehrach H, Yaspo M-L, Peltonen L (1997) Nat Genet 17:399–403
Gibson TJ, Ramu C, Gemund C, Aasland R (1998) Trends Biochem Sci 23:242–244
Halonen M, Kangas H, Ruppell T et al (2004) Human Mutat 23:245–257
Heino M, Peterson P, Kudoh J et al (1999) Biochem Biophys Res Commun 257:821–825
Zuklys S, Balciunaite G, Agarwal A, Fasler-Kan E, Palmer E, Hollander GA (2000) J Immunol 165:1976–1983
Kumar PG, Laloraya M, Wang CY et al (2001) J Biol Chem 276:41357–41364
Pitkanen J, Vahamurto P, Krohn K, Peterson P (2001) J Biol Chem 276:19597–19602
Anderson MS, Venanzi ES, Klein L et al (2002) Science 298:1395–1401
Liston A, Lesage S, Wilson J, Peltonen L, Goodnow CC (2003) Nat Immunol 4:350–354
Liston A, Gray DH, Lesage S et al (2004) J Exp Med 200:1015–1026
Boehm T, Scheu S, Pfeffer K, Bleul CC (2003) J Exp Med 198:757–769
Chin RK, Lo JC, Kim O et al (2003) Nat Immunol 4:1121–1127
Bennett CL, Yoshioka R, Kiyosawa H et al (2000) Am J Hum Genet 66:461–468
Chatila TA, Blaeser F, Ho N et al (2000) J Clin Invest 106: R75–R81
Powell BR, Buist NR, Stenzel P (1982) J Pediatr 100:731–737
Wildin RS, Smyk-Pearson S, Filipovich AH (2002) J Med Genet 39:537–545
Lyon MF, Peters J, Glenister PH, Ball S, Wright E (1990) Proc Natl Acad Sci U S A 87:2433–2437
Godfrey VL, Wilkinson JE, Rinchik EM, Russell LB (1991) Proc Natl Acad Sci U S A 88:5528–5532
Brunkow ME, Jeffery EW, Hjerrild KA et al (2001) Nat Genet 27:68–73
Wildin RS, Ramsdell F, Peake J et al (2001) Nat Genet 27:18–20
Bennett CL, Christie J, Ramsdell F et al (2001) Nat Genet 27:20–21
Hori S, Nomura T, Sakaguchi S (2003) Science 299:1057–1061
Schubert LA, Jeffery E, Zhang Y, Ramsdell F, Ziegler SF (2001) J Biol Chem 276:37672–37679
Khattri R, Cox T, Yasayko SA, Ramsdell F (2003) Nat Immunol 4:337–342
Bacchetta R, Passerini L, Gambineri E et al (2006) J Clin Invest 116:1713–1722
Sneller MC, Wang J, Dale JK et al (1997) Blood 89:1341–1348
Sneller MC, Dale JK, Straus SE (2003) Curr Opin Rheumatol 15:417–421
Canale VC, Smith CH (1967) J Pediatr 70:891–899
Drappa J, Vaishnaw AK, Sullivan KE, Chu JL, Elkon KB (1996) N Engl J Med 335:1643–1649
Rieux-Laucat F, Le Deist F, Hivroz C et al (1995) Science 268:1347–1349
Fisher GH, Rosenberg FJ, Straus SE et al (1995) Cell 81:935–946
Inazawa J, Itoh N, Abe T, Nagata S (1992) Genomics 14:821–822
Itoh N, Yonehara S, Ishii A et al (1991) Cell 66:233–243
Chinnaiyan AM, O’Rourke K, Tewari M, Dixit VM (1995) Cell 81:505–512
Muzio M, Chinnaiyan AM, Kischkel FC et al (1996) Cell 85: 817–827
Wang J, Chun HJ, Wong W, Spencer DM, Lenardo MJ (2001) Proc Natl Acad Sci U S A 98:13884–13888
Nagata S, Suda T (1995) Immunol Today 16:39–43
Infante AJ, Britton HA, DeNapoli T et al (1998) J Pediatr 133:629–633
Jackson CE, Fischer RE, Hsu AP et al (1999) Am J Hum Genet 64:1002–1014
Straus SE, Jaffe ES, Puck JM et al (2001) Blood 98:194–200
van der Werff Ten Bosch J, Schotte P, Ferster A et al (2002) Br J Haematol 117:176–188
Sharfe N, Dadi HK, Shahar M, Roifman CM (1997) Proc Natl Acad Sci U S A 94:3168–3171
Roifman CM (2000) Pediatr Res 48:6–11
Willerford DM, Chen J, Ferry JA, Davidson L, Ma A, Alt FW (1995) Immunity 3:521–530
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Lehman, H.K., Ballow, M. Immune Deficiency Disorders with Autoimmunity and Abnormalities in Immune Regulation—Monogenic Autoimmune Diseases. Clinic Rev Allerg Immunol 34, 141–145 (2008). https://doi.org/10.1007/s12016-007-8038-x
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DOI: https://doi.org/10.1007/s12016-007-8038-x