The immune response in SAPHO syndrome: Deficiency, hyper-responsiveness, or both?

Current Rheumatology Reviews

Volumn 9, Issue 1, 2013, Pages 11-14

  Hayem, Gilles ^a   Hurtado Nédelec, Margarita ^a   Chollet Martin, Sylvie ^a  

^a BICHAT HOSPITAL   (France)

Author keywords

Autoinflammatory; Disease; Neutrophils; Propionibacterium acnes; Sapho syndrome

Indexed keywords

ANTIBIOTIC AGENT; ANTINUCLEAR ANTIBODY; COLLAGEN TYPE 6; COLONY STIMULATING FACTOR 1; GAMMA INTERFERON; INTERLEUKIN 18; INTERLEUKIN 4; INTERLEUKIN 8; LEPTIN; PARIETAL CELL ANTIBODY; RANTES; THYROID ANTIBODY; TRANSFORMING GROWTH FACTOR BETA; TUMOR NECROSIS FACTOR ALPHA;

ANTIBIOTIC THERAPY; ARTICLE; AUTOIMMUNITY; AUTOINFLAMMATORY DISEASE; BONE DESTRUCTION; BONE TISSUE; DRUG TREATMENT FAILURE; EX VIVO STUDY; HUMAN; HYPOTHESIS; IMMUNE RESPONSE; INFLAMMATORY INFILTRATE; MACROPHAGE; MACROPHAGE FUNCTION; NEUTROPHIL; NONHUMAN; OSTEOMYELITIS; PRIORITY JOURNAL; PROPIONIBACTERIUM ACNES; PSORIATIC ARTHRITIS; REMISSION; RESPIRATORY BURST; SAPHO SYNDROME;

EID: 84878626263     PISSN: 15733971     EISSN: 18756360     Source Type: Journal    
DOI: 10.2174/1573397111309010004     Document Type: Article

References (23)

1. Chamot AM, Benhamou CL, Kahn MF, Beraneck L, Kaplan G, Prost A. Le syndrome acné pustulose hyperostose ostéite (SAPHO). Résultat d'une enquête nationale. 85 observations. Rev Rhum Mal Osteoartic 1987; 54(3): 187-96.
2. Hayem G, Bouchaud-Chabot A, Benali K, et al. SAPHO syndrome: a long-term follow-up study of 120 cases. Semin Arthritis Rheum 1999; 29(3): 159-71.
3. Aksentijevich I, Masters SL, Ferguson PJ, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med 2009; 360(23): 2426-37.
4. Colina M, Pizzirani C, Khodeir M, et al. Dysregulation of P2X7 receptor-inflammasome axis in SAPHO syndrome: successful treatment with anakinra. Rheumatology (Oxford) 2010; 49(7): 1416-8.
5. Wendling D, Prati C, Aubin F: Anakinra treatment of SAPHO syndrome: short-term results of an open study. Ann Rheum Dis 2012; 71(6): 1098-100.
6. Beck C, Girschick HJ, Morbach H, et al. Mutation screening of the IL-1 receptor antagonist gene in chronic non-bacterial osteomyelitis of childhood and adolescence. Clin Exp Rheumatol 2011; 29(6):1040-3.
7. Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ. A splice site mutation confirms the role of LPIN2 in Majeed syndrome. Arthritis Rheum 2007; 56(3): 960-4.
8. Ferguson PJ, Chen S, Tayeh MK, et al. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet 2005; 42(7): 551-7.
9. Fang Y, Vilella-Bach M, Bachmann R, Flanigan A, Chen J. Phosphatidic acid-mediated mitogenic activation of mTOR signaling. Science 2001; 294(5548): 1942-5.
10. Shoham NG, Centola M, Mansfield E, et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci U S A 2003; 100(23): 13501-6.
11. Assmann G, Kueck O, Kirchhoff T, et al. Efficacy of antibiotic therapy for SAPHO syndrome is lost after its discontinuation: an interventional study. Arthritis Res Ther 2009; 11(5): R140.
12. Ben Abdelghani K, Dran DG, Gottenberg JE, Morel J, Sibilia J, Combe B. Tumor necrosis factor-alpha blockers in SAPHO syndrome. J Rheumatol 2010; 37(8): 1699-704.
13. Ferguson PJ, Bing X, Vasef MA, et al. A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis. Bone 2006; 38(1): 41-7.
14. Grosse J, Chitu V, Marquardt A, et al. Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease. Blood 2006; 107(8): 3350-8.
15. Chitu V, Stanley ER. Pombe Cdc15 homology (PCH) proteins: coordinators of membrane-cytoskeletal interactions. Trends Cell Biol 2007; 17(3): 145-56.
16. Cooper KM, Bennin DA, Huttenlocher A. The PCH family member proline-serine-threonine phosphatase-interacting protein 1 targets to the leukocyte uropod and regulates directed cell migration. Mol Biol Cell 2008; 19(8): 3180-91.
17. Hurtado-Nedelec M, Chollet-Martin S, Chapeton D, Hugot JP, Hayem G, Gerard B. Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes. J Rheumatol 2010; 37(2): 401-9.
18. Ferguson PJ, Lokuta MA, El-Shanti HI, Muhle L, Bing X, Huttenlocher A. Neutrophil dysfunction in a family with a SAPHO syndrome-like phenotype. Arthritis Rheum 2008; 58(10): 3264-9.
19. Hurtado-Nedelec M, Chollet-Martin S, Nicaise-Roland P, et al. Characterization of the immune response in the synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome. Rheumatology (Oxford) 2008; 47(8): 1160-7.
20. Antonelli A, Delle Sedie A, Fallahi P, et al. High prevalence of thyroid autoimmunity and hypothyroidism in patients with psoriatic arthritis. J Rheumatol 2006; 33(10): 2026-8.
21. Colina M, Govoni M, Orzincolo C, Trotta F. Clinical and radiologic evolution of synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: a single center study of a cohort of 71 subjects. Arthritis Rheum 2009; 61(6): 813-21.
22. Grosjean C, Hurtado-Nedelec M, Nicaise-Roland P, et al. Prevalence of autoantibodies in SAPHO syndrome: a single-center study of 90 patients. J Rheumatol 2010; 37(3): 639-43.
23. Jansson A, Renner ED, Ramser J, et al. Classification of nonbacterial osteitis: retrospective study of clinical, immunological and genetic aspects in 89 patients. Rheumatology (Oxford) 2007; 46(1): 154-60.