Skip to main content
Erschienen in: Seminars in Immunopathology 4/2015

01.07.2015 | Review

New discoveries in CRMO: IL-1β, the neutrophil, and the microbiome implicated in disease pathogenesis in Pstpip2-deficient mice

verfasst von: Polly J. Ferguson, Ronald M. Laxer

Erschienen in: Seminars in Immunopathology | Ausgabe 4/2015

Einloggen, um Zugang zu erhalten

Abstract

Chronic non-bacterial osteomyelitis (CNO), chronic recurrent multifocal osteomyelitis (CRMO) and synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome are autoinflammatory disorder(s) in which sterile osteomyelitis is frequently accompanied by inflammatory conditions of the joints, skin, or intestine. Patients with CRMO commonly have a personal or family history of psoriasis, inflammatory bowel disease, and inflammatory arthritis, suggesting shared disease pathogenesis. Work by our group and others has demonstrated that dysregulation of interleukin-1 (IL-1) signaling can drive sterile osteomyelitis in the two human monogenic forms of the disease. Recent work in the chronic multifocal osteomyelitis (cmo) mouse model demonstrates that the disease is IL-1-mediated, that neutrophils are critical effector cells and that both caspase-1 and caspase-8 play redundant roles in mediating the cleavage of pro-IL-1β into its biologically active form. Recent data in the cmo mouse demonstrate that dietary manipulation alters the cmo microbiome and can prevent the development of osteomyelitis. Further investigation is needed to determine the specific components of the diet that result in protection from disease and if this finding can be translated into a treatment for human CRMO.
Literatur
1.
Zurück zum Zitat Hedrich CM, Hofmann SR, Pablik J, Morbach H, Girschick HJ (2013) Autoinflammatory bone disorders with special focus on chronic recurrent multifocal osteomyelitis (CRMO). Pediatr Rheumatol Online J 11:47PubMedCentralPubMedCrossRef Hedrich CM, Hofmann SR, Pablik J, Morbach H, Girschick HJ (2013) Autoinflammatory bone disorders with special focus on chronic recurrent multifocal osteomyelitis (CRMO). Pediatr Rheumatol Online J 11:47PubMedCentralPubMedCrossRef
2.
Zurück zum Zitat Stern SM, Ferguson PJ (2013) Autoinflammatory bone diseases. Rheum Dis Clin N Am 39:735–49CrossRef Stern SM, Ferguson PJ (2013) Autoinflammatory bone diseases. Rheum Dis Clin N Am 39:735–49CrossRef
3.
Zurück zum Zitat Jansson A, Renner ED, Ramser J, Mayer A, Haban M, Meindl A, Grote V, Diebold J, Jansson V, Schneider K, Belohradsky BH (2007) Classification of non-bacterial osteitis: retrospective study of clinical, immunological and genetic aspects in 89 patients. Rheumatology (Oxford) 46:154–60CrossRef Jansson A, Renner ED, Ramser J, Mayer A, Haban M, Meindl A, Grote V, Diebold J, Jansson V, Schneider K, Belohradsky BH (2007) Classification of non-bacterial osteitis: retrospective study of clinical, immunological and genetic aspects in 89 patients. Rheumatology (Oxford) 46:154–60CrossRef
4.
Zurück zum Zitat Kahn MF, Chamot AM (1992) SAPHO syndrome. Rheum Dis Clin N Am 18:225–46 Kahn MF, Chamot AM (1992) SAPHO syndrome. Rheum Dis Clin N Am 18:225–46
5.
Zurück zum Zitat Giedion A, Holthusen W, Masel LF, Vischer D (1972) Subacute and chronic “symmetrical” osteomyelitis. Ann Radiol (Paris) 15:329–42 Giedion A, Holthusen W, Masel LF, Vischer D (1972) Subacute and chronic “symmetrical” osteomyelitis. Ann Radiol (Paris) 15:329–42
6.
Zurück zum Zitat Girschick HJ, Raab P, Surbaum S, Trusen A, Kirschner S, Schneider P, Papadopoulos T, Muller-Hermelink HK, Lipsky PE (2005) Chronic non-bacterial osteomyelitis in children. Ann Rheum Dis 64:279–85PubMedCentralPubMedCrossRef Girschick HJ, Raab P, Surbaum S, Trusen A, Kirschner S, Schneider P, Papadopoulos T, Muller-Hermelink HK, Lipsky PE (2005) Chronic non-bacterial osteomyelitis in children. Ann Rheum Dis 64:279–85PubMedCentralPubMedCrossRef
7.
Zurück zum Zitat Schultz C, Holterhus PM, Seidel A, Jonas S, Barthel M, Kruse K, Bucsky P (1999) Chronic recurrent multifocal osteomyelitis in children. Pediatr Infect Dis J 18:1008–13PubMedCrossRef Schultz C, Holterhus PM, Seidel A, Jonas S, Barthel M, Kruse K, Bucsky P (1999) Chronic recurrent multifocal osteomyelitis in children. Pediatr Infect Dis J 18:1008–13PubMedCrossRef
8.
Zurück zum Zitat Ferguson PJ, Brown DR, Sundel R, Killian J, El-Shanti HI (2005) Chronic inflammatory disorders in first and second degree relatives of children with chronic recurrent multifocal osteomyelitis. Arthritis Rheum 52:747 Ferguson PJ, Brown DR, Sundel R, Killian J, El-Shanti HI (2005) Chronic inflammatory disorders in first and second degree relatives of children with chronic recurrent multifocal osteomyelitis. Arthritis Rheum 52:747
9.
Zurück zum Zitat Sasaki T (1967) A case of osteomyelitis of the bilateral clavicles associated with pustulosis palmaris et plantaris. Rinsho Seikeigeka 2:333–7 Sasaki T (1967) A case of osteomyelitis of the bilateral clavicles associated with pustulosis palmaris et plantaris. Rinsho Seikeigeka 2:333–7
10.
Zurück zum Zitat Bjorksten B, Gustavson KH, Eriksson B, Lindholm A, Nordstrom S (1978) Chronic recurrent multifocal osteomyelitis and pustulosis palmoplantaris. J Pediatr 93:227–31PubMedCrossRef Bjorksten B, Gustavson KH, Eriksson B, Lindholm A, Nordstrom S (1978) Chronic recurrent multifocal osteomyelitis and pustulosis palmoplantaris. J Pediatr 93:227–31PubMedCrossRef
11.
Zurück zum Zitat Bergdahl K, Bjorksten B, Gustavson KH, Liden S, Probst F (1979) Pustulosis palmoplantaris and its relation to chronic recurrent multifocal osteomyelitis. Dermatologica 159:37–45PubMedCrossRef Bergdahl K, Bjorksten B, Gustavson KH, Liden S, Probst F (1979) Pustulosis palmoplantaris and its relation to chronic recurrent multifocal osteomyelitis. Dermatologica 159:37–45PubMedCrossRef
12.
Zurück zum Zitat Paller AS, Pachman L, Rich K, Esterly NB, Gonzalez-Crussi F (1985) Pustulosis palmaris et plantaris: its association with chronic recurrent multifocal osteomyelitis. J Am Acad Dermatol 12:927–30PubMedCrossRef Paller AS, Pachman L, Rich K, Esterly NB, Gonzalez-Crussi F (1985) Pustulosis palmaris et plantaris: its association with chronic recurrent multifocal osteomyelitis. J Am Acad Dermatol 12:927–30PubMedCrossRef
13.
Zurück zum Zitat Laxer RM, Shore AD, Manson D, King S, Silverman ED, Wilmot DM (1988) Chronic recurrent multifocal osteomyelitis and psoriasis—a report of a new association and review of related disorders. Semin Arthritis Rheum 17:260–70PubMedCrossRef Laxer RM, Shore AD, Manson D, King S, Silverman ED, Wilmot DM (1988) Chronic recurrent multifocal osteomyelitis and psoriasis—a report of a new association and review of related disorders. Semin Arthritis Rheum 17:260–70PubMedCrossRef
14.
Zurück zum Zitat Bognar M, Blake W, Agudelo C (1998) Chronic recurrent multifocal osteomyelitis associated with Crohn’s disease. Am J Med Sci 315:133–5PubMedCrossRef Bognar M, Blake W, Agudelo C (1998) Chronic recurrent multifocal osteomyelitis associated with Crohn’s disease. Am J Med Sci 315:133–5PubMedCrossRef
15.
Zurück zum Zitat Bousvaros A, Marcon M, Treem W, Waters P, Issenman R, Couper R, Burnell R, Rosenberg A, Rabinovich E, Kirschner BS (1999) Chronic recurrent multifocal osteomyelitis associated with chronic inflammatory bowel disease in children. Dig Dis Sci 44:2500–7PubMedCrossRef Bousvaros A, Marcon M, Treem W, Waters P, Issenman R, Couper R, Burnell R, Rosenberg A, Rabinovich E, Kirschner BS (1999) Chronic recurrent multifocal osteomyelitis associated with chronic inflammatory bowel disease in children. Dig Dis Sci 44:2500–7PubMedCrossRef
16.
Zurück zum Zitat Jo Y, Matsumoto T, Nagamine R (2001) A case of Crohn’s disease with leg pain. Br J Radiol 74:203–4PubMedCrossRef Jo Y, Matsumoto T, Nagamine R (2001) A case of Crohn’s disease with leg pain. Br J Radiol 74:203–4PubMedCrossRef
17.
Zurück zum Zitat Carpenter E, Jackson MA, Friesen CA, Scarbrough M, Roberts CC (2004) Crohn’s-associated chronic recurrent multifocal osteomyelitis responsive to infliximab. J Pediatr 144:541–4PubMedCrossRef Carpenter E, Jackson MA, Friesen CA, Scarbrough M, Roberts CC (2004) Crohn’s-associated chronic recurrent multifocal osteomyelitis responsive to infliximab. J Pediatr 144:541–4PubMedCrossRef
18.
Zurück zum Zitat Assmann G, Simon P (2011) The SAPHO syndrome—are microbes involved? Best Pract Res Clin Rheumatol 25:423–34PubMedCrossRef Assmann G, Simon P (2011) The SAPHO syndrome—are microbes involved? Best Pract Res Clin Rheumatol 25:423–34PubMedCrossRef
20.
Zurück zum Zitat Assmann G, Kueck O, Kirchhoff T, Rosenthal H, Voswinkel J, Pfreundschuh M, Zeidler H, Wagner AD (2009) Efficacy of antibiotic therapy for SAPHO syndrome is lost after its discontinuation: an interventional study. Arthritis Res Ther 11:R140PubMedCentralPubMedCrossRef Assmann G, Kueck O, Kirchhoff T, Rosenthal H, Voswinkel J, Pfreundschuh M, Zeidler H, Wagner AD (2009) Efficacy of antibiotic therapy for SAPHO syndrome is lost after its discontinuation: an interventional study. Arthritis Res Ther 11:R140PubMedCentralPubMedCrossRef
21.
Zurück zum Zitat Huber AM, Lam PY, Duffy CM, Yeung RS, Ditchfield M, Laxer D, Cole WG, Kerr Graham H, Allen RC, Laxer RM (2002) Chronic recurrent multifocal osteomyelitis: clinical outcomes after more than five years of follow-up. J Pediatr 141:198–203PubMedCrossRef Huber AM, Lam PY, Duffy CM, Yeung RS, Ditchfield M, Laxer D, Cole WG, Kerr Graham H, Allen RC, Laxer RM (2002) Chronic recurrent multifocal osteomyelitis: clinical outcomes after more than five years of follow-up. J Pediatr 141:198–203PubMedCrossRef
22.
Zurück zum Zitat Bjorksten B, Boquist L (1980) Histopathological aspects of chronic recurrent multifocal osteomyelitis. J Bone Joint Surg (Br) 62:376–80 Bjorksten B, Boquist L (1980) Histopathological aspects of chronic recurrent multifocal osteomyelitis. J Bone Joint Surg (Br) 62:376–80
23.
Zurück zum Zitat Jurik AG (2004) Chronic recurrent multifocal osteomyelitis. Semin Musculoskelet Radiol 8:243–53PubMedCrossRef Jurik AG (2004) Chronic recurrent multifocal osteomyelitis. Semin Musculoskelet Radiol 8:243–53PubMedCrossRef
24.
Zurück zum Zitat Pelkonen P, Ryoppy S, Jaaskelainen J, Rapola J, Repo H, Kaitila I (1988) Chronic osteomyelitis-like disease with negative bacterial cultures. Am J Dis Child 142:1167–73PubMed Pelkonen P, Ryoppy S, Jaaskelainen J, Rapola J, Repo H, Kaitila I (1988) Chronic osteomyelitis-like disease with negative bacterial cultures. Am J Dis Child 142:1167–73PubMed
25.
Zurück zum Zitat King SM, Laxer RM, Manson D, Gold R (1987) Chronic recurrent multifocal osteomyelitis: a noninfectious inflammatory process. Pediatr Infect Dis J 6:907–11PubMedCrossRef King SM, Laxer RM, Manson D, Gold R (1987) Chronic recurrent multifocal osteomyelitis: a noninfectious inflammatory process. Pediatr Infect Dis J 6:907–11PubMedCrossRef
26.
Zurück zum Zitat Girschick HJ, Huppertz HI, Harmsen D, Krauspe R, Muller-Hermelink HK, Papadopoulos T (1999) Chronic recurrent multifocal osteomyelitis in children: diagnostic value of histopathology and microbial testing. Hum Pathol 30:59–65PubMedCrossRef Girschick HJ, Huppertz HI, Harmsen D, Krauspe R, Muller-Hermelink HK, Papadopoulos T (1999) Chronic recurrent multifocal osteomyelitis in children: diagnostic value of histopathology and microbial testing. Hum Pathol 30:59–65PubMedCrossRef
27.
Zurück zum Zitat Carr AJ, Cole WG, Roberton DM, Chow CW (1993) Chronic multifocal osteomyelitis. J Bone Joint Surg (Br) 75:582–91 Carr AJ, Cole WG, Roberton DM, Chow CW (1993) Chronic multifocal osteomyelitis. J Bone Joint Surg (Br) 75:582–91
28.
Zurück zum Zitat Yu L, Kasser JR, O’Rourke E, Kozakewich H (1989) Chronic recurrent multifocal osteomyelitis. Association with vertebra plana [see comments]. J Bone Joint Surg Am 71:105–12PubMed Yu L, Kasser JR, O’Rourke E, Kozakewich H (1989) Chronic recurrent multifocal osteomyelitis. Association with vertebra plana [see comments]. J Bone Joint Surg Am 71:105–12PubMed
29.
Zurück zum Zitat Manson D, Wilmot DM, King S, Laxer RM (1989) Physeal involvement in chronic recurrent multifocal osteomyelitis. Pediatr Radiol 20:76–9PubMedCrossRef Manson D, Wilmot DM, King S, Laxer RM (1989) Physeal involvement in chronic recurrent multifocal osteomyelitis. Pediatr Radiol 20:76–9PubMedCrossRef
30.
Zurück zum Zitat Sharma M, Ferguson PJ (2013) Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers. Curr Opin Rheumatol 25:658–64PubMedCrossRef Sharma M, Ferguson PJ (2013) Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers. Curr Opin Rheumatol 25:658–64PubMedCrossRef
31.
Zurück zum Zitat Deutschmann A, Mache CJ, Bodo K, Zebedin D, Ring E (2005) Successful treatment of chronic recurrent multifocal osteomyelitis with tumor necrosis factor-alpha blockage. Pediatrics 116:1231–3PubMedCrossRef Deutschmann A, Mache CJ, Bodo K, Zebedin D, Ring E (2005) Successful treatment of chronic recurrent multifocal osteomyelitis with tumor necrosis factor-alpha blockage. Pediatrics 116:1231–3PubMedCrossRef
32.
Zurück zum Zitat Kerrison C, Davidson JE, Cleary AG, Beresford MW (2004) Pamidronate in the treatment of childhood SAPHO syndrome. Rheumatology (Oxford) 43:1246–51CrossRef Kerrison C, Davidson JE, Cleary AG, Beresford MW (2004) Pamidronate in the treatment of childhood SAPHO syndrome. Rheumatology (Oxford) 43:1246–51CrossRef
33.
Zurück zum Zitat Miettunen PM, Wei X, Kaura D, Reslan WA, Aguirre AN, Kellner JD (2009) Dramatic pain relief and resolution of bone inflammation following pamidronate in 9 pediatric patients with persistent chronic recurrent multifocal osteomyelitis (CRMO). Pediatr Rheumatol Online J 7:2PubMedCentralPubMedCrossRef Miettunen PM, Wei X, Kaura D, Reslan WA, Aguirre AN, Kellner JD (2009) Dramatic pain relief and resolution of bone inflammation following pamidronate in 9 pediatric patients with persistent chronic recurrent multifocal osteomyelitis (CRMO). Pediatr Rheumatol Online J 7:2PubMedCentralPubMedCrossRef
34.
Zurück zum Zitat Simm PJ, Allen RC, Zacharin MR (2008) Bisphosphonate treatment in chronic recurrent multifocal osteomyelitis. J Pediatr 152:571–5PubMedCrossRef Simm PJ, Allen RC, Zacharin MR (2008) Bisphosphonate treatment in chronic recurrent multifocal osteomyelitis. J Pediatr 152:571–5PubMedCrossRef
35.
Zurück zum Zitat Gleeson H, Wiltshire E, Briody J, Hall J, Chaitow J, Sillence D, Cowell C, Munns C (2008) Childhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shape. J Rheumatol 35:707–12PubMed Gleeson H, Wiltshire E, Briody J, Hall J, Chaitow J, Sillence D, Cowell C, Munns C (2008) Childhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shape. J Rheumatol 35:707–12PubMed
36.
Zurück zum Zitat Amital H, Applbaum YH, Aamar S, Daniel N, Rubinow A (2004) SAPHO syndrome treated with pamidronate: an open-label study of 10 patients. Rheumatology (Oxford) 43:658–61CrossRef Amital H, Applbaum YH, Aamar S, Daniel N, Rubinow A (2004) SAPHO syndrome treated with pamidronate: an open-label study of 10 patients. Rheumatology (Oxford) 43:658–61CrossRef
37.
Zurück zum Zitat Compeyrot-Lacassagne S, Rosenberg AM, Babyn P, Laxer RM (2007) Pamidronate treatment of chronic noninfectious inflammatory lesions of the mandible in children. J Rheumatol 34:1585–9PubMed Compeyrot-Lacassagne S, Rosenberg AM, Babyn P, Laxer RM (2007) Pamidronate treatment of chronic noninfectious inflammatory lesions of the mandible in children. J Rheumatol 34:1585–9PubMed
38.
Zurück zum Zitat Just A, Adams S, Brinkmeier T, Barsegian V, Lorenzen J, Schilling F, Frosch P (2008) Successful treatment of primary chronic osteomyelitis in SAPHO syndrome with bisphosphonates. J Dtsch Dermatol Ges 6:657–60PubMedCrossRef Just A, Adams S, Brinkmeier T, Barsegian V, Lorenzen J, Schilling F, Frosch P (2008) Successful treatment of primary chronic osteomyelitis in SAPHO syndrome with bisphosphonates. J Dtsch Dermatol Ges 6:657–60PubMedCrossRef
39.
Zurück zum Zitat Hofmann SR, Schwarz T, Moller JC, Morbach H, Schnabel A, Rosen-Wolff A, Girschick HJ, Hedrich CM (2011) Chronic non-bacterial osteomyelitis is associated with impaired Sp1 signaling, reduced IL10 promoter phosphorylation, and reduced myeloid IL-10 expression. Clin Immunol 141:317–27PubMedCrossRef Hofmann SR, Schwarz T, Moller JC, Morbach H, Schnabel A, Rosen-Wolff A, Girschick HJ, Hedrich CM (2011) Chronic non-bacterial osteomyelitis is associated with impaired Sp1 signaling, reduced IL10 promoter phosphorylation, and reduced myeloid IL-10 expression. Clin Immunol 141:317–27PubMedCrossRef
40.
Zurück zum Zitat Hofmann SR, Roesen-Wolff A, Hahn G, Hedrich CM (2012) Update: cytokine dysregulation in chronic nonbacterial osteomyelitis (CNO). Int J Rheumatol 2012:310206PubMedCentralPubMedCrossRef Hofmann SR, Roesen-Wolff A, Hahn G, Hedrich CM (2012) Update: cytokine dysregulation in chronic nonbacterial osteomyelitis (CNO). Int J Rheumatol 2012:310206PubMedCentralPubMedCrossRef
41.
Zurück zum Zitat Hofmann SR, Morbach H, Schwarz T, Rosen-Wolff A, Girschick HJ, Hedrich CM (2012) Attenuated TLR4/MAPK signaling in monocytes from patients with CRMO results in impaired IL-10 expression. Clin Immunol 145:69–76PubMedCrossRef Hofmann SR, Morbach H, Schwarz T, Rosen-Wolff A, Girschick HJ, Hedrich CM (2012) Attenuated TLR4/MAPK signaling in monocytes from patients with CRMO results in impaired IL-10 expression. Clin Immunol 145:69–76PubMedCrossRef
42.
Zurück zum Zitat Ferguson PJ, El-Shanti HI (2007) Autoinflammatory bone disorders. Curr Opin Immunol 19:492 Ferguson PJ, El-Shanti HI (2007) Autoinflammatory bone disorders. Curr Opin Immunol 19:492
43.
Zurück zum Zitat Golla A, Jansson A, Ramser J, Hellebrand H, Zahn R, Meitinger T, Belohradsky BH, Meindl A (2002) Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3–18q22. Eur J Hum Genet 10:217–21PubMedCrossRef Golla A, Jansson A, Ramser J, Hellebrand H, Zahn R, Meitinger T, Belohradsky BH, Meindl A (2002) Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3–18q22. Eur J Hum Genet 10:217–21PubMedCrossRef
44.
Zurück zum Zitat Safra N, Johnson EG, Lit L, Foreman O, Wolf ZT, Aguilar M, Karmi N, Finno CJ, Bannasch DL (2013) Clinical manifestations, response to treatment, and clinical outcome for Weimaraners with hypertrophic osteodystrophy: 53 cases (2009–2011). J Am Vet Med Assoc 242:1260–6PubMedCentralPubMedCrossRef Safra N, Johnson EG, Lit L, Foreman O, Wolf ZT, Aguilar M, Karmi N, Finno CJ, Bannasch DL (2013) Clinical manifestations, response to treatment, and clinical outcome for Weimaraners with hypertrophic osteodystrophy: 53 cases (2009–2011). J Am Vet Med Assoc 242:1260–6PubMedCentralPubMedCrossRef
45.
Zurück zum Zitat Safra N, Pedersen NC, Wolf Z, Johnson EG, Liu HW, Hughes AM, Young A, Bannasch DL (2011) Expanded dog leukocyte antigen (DLA) single nucleotide polymorphism (SNP) genotyping reveals spurious class II associations. Vet J 189:220–6PubMedCentralPubMedCrossRef Safra N, Pedersen NC, Wolf Z, Johnson EG, Liu HW, Hughes AM, Young A, Bannasch DL (2011) Expanded dog leukocyte antigen (DLA) single nucleotide polymorphism (SNP) genotyping reveals spurious class II associations. Vet J 189:220–6PubMedCentralPubMedCrossRef
46.
Zurück zum Zitat Crumlish PT, Sweeney T, Jones B, Angles JM (2006) Hypertrophic osteodystrophy in the Weimaraner dog: lack of association between DQA1 alleles of the canine MHC and hypertrophic osteodystrophy. Vet J 171:308–13PubMedCrossRef Crumlish PT, Sweeney T, Jones B, Angles JM (2006) Hypertrophic osteodystrophy in the Weimaraner dog: lack of association between DQA1 alleles of the canine MHC and hypertrophic osteodystrophy. Vet J 171:308–13PubMedCrossRef
47.
Zurück zum Zitat Grosse J, Chitu V, Marquardt A, Hanke P, Schmittwolf C, Zeitlmann L, Schropp P, Barth B, Yu P, Paffenholz R, Stumm G, Nehls M, Stanley ER (2006) Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease. Blood 107:3350–8PubMedCentralPubMedCrossRef Grosse J, Chitu V, Marquardt A, Hanke P, Schmittwolf C, Zeitlmann L, Schropp P, Barth B, Yu P, Paffenholz R, Stumm G, Nehls M, Stanley ER (2006) Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease. Blood 107:3350–8PubMedCentralPubMedCrossRef
48.
Zurück zum Zitat Ferguson PJ, Bing X, Vasef MA, Ochoa LA, Mahgoub A, Waldschmidt TJ, Tygrett LT, Schlueter AJ, El-Shanti H (2006) A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis. Bone 38:41–7PubMedCentralPubMedCrossRef Ferguson PJ, Bing X, Vasef MA, Ochoa LA, Mahgoub A, Waldschmidt TJ, Tygrett LT, Schlueter AJ, El-Shanti H (2006) A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis. Bone 38:41–7PubMedCentralPubMedCrossRef
49.
Zurück zum Zitat Cassel SL, Janczy JR, Bing X, Wilson SP, Olivier AK, Otero JE, Iwakura Y, Shayakhmetov DM, Bassuk AG, Abu-Amer Y, Brogden KA, Burns TL, Sutterwala FS, Ferguson PJ (2014) Inflammasome-independent IL-1β mediates autoinflammatory disease in Pstpip2-deficient mice. Proc Natl Acad Sci U S A 111:1072–7PubMedCentralPubMedCrossRef Cassel SL, Janczy JR, Bing X, Wilson SP, Olivier AK, Otero JE, Iwakura Y, Shayakhmetov DM, Bassuk AG, Abu-Amer Y, Brogden KA, Burns TL, Sutterwala FS, Ferguson PJ (2014) Inflammasome-independent IL-1β mediates autoinflammatory disease in Pstpip2-deficient mice. Proc Natl Acad Sci U S A 111:1072–7PubMedCentralPubMedCrossRef
50.
Zurück zum Zitat Lukens JR, Gross JM, Calabrese C, Iwakura Y, Lamkanfi M, Vogel P, Kanneganti TD (2014) Critical role for inflammasome-independent IL-1β production in osteomyelitis. Proc Natl Acad Sci U S A 111:1066–71PubMedCentralPubMedCrossRef Lukens JR, Gross JM, Calabrese C, Iwakura Y, Lamkanfi M, Vogel P, Kanneganti TD (2014) Critical role for inflammasome-independent IL-1β production in osteomyelitis. Proc Natl Acad Sci U S A 111:1066–71PubMedCentralPubMedCrossRef
51.
Zurück zum Zitat Chitu V, Ferguson PJ, de Bruijn R, Schlueter AJ, Ochoa LA, Waldschmidt TJ, Yeung YG, Stanley ER (2009) Primed innate immunity leads to autoinflammatory disease in PSTPIP2-deficient cmo mice. Blood 114:2497–505PubMedCentralPubMedCrossRef Chitu V, Ferguson PJ, de Bruijn R, Schlueter AJ, Ochoa LA, Waldschmidt TJ, Yeung YG, Stanley ER (2009) Primed innate immunity leads to autoinflammatory disease in PSTPIP2-deficient cmo mice. Blood 114:2497–505PubMedCentralPubMedCrossRef
52.
Zurück zum Zitat Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H (2005) Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet 42:551–7PubMedCentralPubMedCrossRef Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H (2005) Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet 42:551–7PubMedCentralPubMedCrossRef
53.
Zurück zum Zitat Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgard U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti HI, Pope E, Barron K, Bing X, Laurence A, Lee CC, Chapelle D, Clarke GI, Ohson K, Nicholson M, Gadina M, Yang B, Korman BD, Gregersen PK, van Hagen PM, Hak AE, Huizing M, Rahman P, Douek DC, Remmers EF, Kastner DL, Goldbach-Mansky R (2009) An autoinflammatory disease with deficiency of the interleukin-1 receptor antagonist. N Engl J Med 360:2426–37PubMedCentralPubMedCrossRef Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgard U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti HI, Pope E, Barron K, Bing X, Laurence A, Lee CC, Chapelle D, Clarke GI, Ohson K, Nicholson M, Gadina M, Yang B, Korman BD, Gregersen PK, van Hagen PM, Hak AE, Huizing M, Rahman P, Douek DC, Remmers EF, Kastner DL, Goldbach-Mansky R (2009) An autoinflammatory disease with deficiency of the interleukin-1 receptor antagonist. N Engl J Med 360:2426–37PubMedCentralPubMedCrossRef
54.
Zurück zum Zitat Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U, Hessner MJ, Verbsky J (2009) An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med 360:2438–44PubMedCentralPubMedCrossRef Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U, Hessner MJ, Verbsky J (2009) An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med 360:2438–44PubMedCentralPubMedCrossRef
55.
Zurück zum Zitat Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ (2007) A splice site mutation confirms the role of LPIN2 in Majeed syndrome. Arthritis Rheum 56:960–4PubMedCrossRef Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ (2007) A splice site mutation confirms the role of LPIN2 in Majeed syndrome. Arthritis Rheum 56:960–4PubMedCrossRef
56.
Zurück zum Zitat Majeed HA, Kalaawi M, Mohanty D, Teebi AS, Tunjekar MF, al-Gharbawy F, Majeed SA, al-Gazzar AH (1989) Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. J Pediatr 115:730–4PubMedCrossRef Majeed HA, Kalaawi M, Mohanty D, Teebi AS, Tunjekar MF, al-Gharbawy F, Majeed SA, al-Gazzar AH (1989) Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. J Pediatr 115:730–4PubMedCrossRef
57.
Zurück zum Zitat Majeed HA, El-Shanti H, Al-Rimawi H, Al-Masri N (2000) On mice and men: an autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia. J Pediatr 137:441–2PubMedCrossRef Majeed HA, El-Shanti H, Al-Rimawi H, Al-Masri N (2000) On mice and men: an autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia. J Pediatr 137:441–2PubMedCrossRef
58.
Zurück zum Zitat Majeed HA, Al-Tarawna M, El-Shanti H, Kamel B, Al-Khalaileh F (2001) The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review. Eur J Pediatr 160:705–10PubMedCrossRef Majeed HA, Al-Tarawna M, El-Shanti H, Kamel B, Al-Khalaileh F (2001) The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review. Eur J Pediatr 160:705–10PubMedCrossRef
59.
Zurück zum Zitat Herlin T, Fiirgaard B, Bjerre M, Kerndrup G, Hasle H, Bing X, Ferguson PJ (2013) Efficacy of anti-IL-1 treatment in Majeed syndrome. Ann Rheum Dis 72:410–3PubMedCentralPubMedCrossRef Herlin T, Fiirgaard B, Bjerre M, Kerndrup G, Hasle H, Bing X, Ferguson PJ (2013) Efficacy of anti-IL-1 treatment in Majeed syndrome. Ann Rheum Dis 72:410–3PubMedCentralPubMedCrossRef
61.
Zurück zum Zitat Donkor J, Zhang P, Wong S, O’Loughlin L, Dewald J, Kok BP, Brindley DN, Reue K (2009) A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2. J Biol Chem 284:29968–78PubMedCentralPubMedCrossRef Donkor J, Zhang P, Wong S, O’Loughlin L, Dewald J, Kok BP, Brindley DN, Reue K (2009) A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2. J Biol Chem 284:29968–78PubMedCentralPubMedCrossRef
62.
Zurück zum Zitat Shi H, Kokoeva MV, Inouye K, Tzameli I, Yin H, Flier JS (2006) TLR4 links innate immunity and fatty acid-induced insulin resistance. J Clin Invest 116:3015–25PubMedCentralPubMedCrossRef Shi H, Kokoeva MV, Inouye K, Tzameli I, Yin H, Flier JS (2006) TLR4 links innate immunity and fatty acid-induced insulin resistance. J Clin Invest 116:3015–25PubMedCentralPubMedCrossRef
63.
Zurück zum Zitat Lee JY, Sohn KH, Rhee SH, Hwang D (2001) Saturated fatty acids, but not unsaturated fatty acids, induce the expression of cyclooxygenase-2 mediated through toll-like receptor 4. J Biol Chem 276:16683–9PubMedCrossRef Lee JY, Sohn KH, Rhee SH, Hwang D (2001) Saturated fatty acids, but not unsaturated fatty acids, induce the expression of cyclooxygenase-2 mediated through toll-like receptor 4. J Biol Chem 276:16683–9PubMedCrossRef
64.
Zurück zum Zitat Hwang D (2001) Modulation of the expression of cyclooxygenase-2 by fatty acids mediated through toll-like receptor 4-derived signaling pathways. FASEB J 15:2556–64PubMedCrossRef Hwang D (2001) Modulation of the expression of cyclooxygenase-2 by fatty acids mediated through toll-like receptor 4-derived signaling pathways. FASEB J 15:2556–64PubMedCrossRef
65.
Zurück zum Zitat Valdearcos M, Esquinas E, Meana C, Pena L, Gil-de-Gomez L, Balsinde J, Balboa MA (2012) Lipin-2 reduces proinflammatory signaling induced by saturated fatty acids in macrophages. J Biol Chem 287:10894–904PubMedCentralPubMedCrossRef Valdearcos M, Esquinas E, Meana C, Pena L, Gil-de-Gomez L, Balsinde J, Balboa MA (2012) Lipin-2 reduces proinflammatory signaling induced by saturated fatty acids in macrophages. J Biol Chem 287:10894–904PubMedCentralPubMedCrossRef
66.
Zurück zum Zitat Goldbach-Mansky R (2012) 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 167:391–404PubMedCentralPubMedCrossRef Goldbach-Mansky R (2012) 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 167:391–404PubMedCentralPubMedCrossRef
67.
Zurück zum Zitat Netea MG, van de Veerdonk FL, van der Meer JW, Dinarello CA, Joosten LA (2014) Inflammasome-independent regulation of IL-1-family cytokines. Annu Rev Immunol Netea MG, van de Veerdonk FL, van der Meer JW, Dinarello CA, Joosten LA (2014) Inflammasome-independent regulation of IL-1-family cytokines. Annu Rev Immunol
68.
Zurück zum Zitat Lukens JR, Gurung P, Vogel P, Johnson GR, Carter RA, McGoldrick DJ, Bandi SR, Calabrese CR, Walle LV, Lamkanfi M, Kanneganti TD (2014) Dietary modulation of the microbiome affects autoinflammatory disease. Nature 516:246–249PubMedCentralPubMedCrossRef Lukens JR, Gurung P, Vogel P, Johnson GR, Carter RA, McGoldrick DJ, Bandi SR, Calabrese CR, Walle LV, Lamkanfi M, Kanneganti TD (2014) Dietary modulation of the microbiome affects autoinflammatory disease. Nature 516:246–249PubMedCentralPubMedCrossRef
Metadaten
Titel
New discoveries in CRMO: IL-1β, the neutrophil, and the microbiome implicated in disease pathogenesis in Pstpip2-deficient mice
verfasst von
Polly J. Ferguson
Ronald M. Laxer
Publikationsdatum
01.07.2015
Verlag
Springer Berlin Heidelberg
Erschienen in
Seminars in Immunopathology / Ausgabe 4/2015
Print ISSN: 1863-2297
Elektronische ISSN: 1863-2300
DOI
https://doi.org/10.1007/s00281-015-0488-2

Weitere Artikel der Ausgabe 4/2015

Seminars in Immunopathology 4/2015 Zur Ausgabe

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.