Rodríguez L, Leiro V, Olivares L

Idioma: Español
Referencias bibliográficas: 30
Paginas: 94-100
Archivo PDF: 311.36 Kb.

RESUMEN

Las enfermedades autoinflamatorias son un grupo de patologías recientemente descriptas, causadas por defectos o mutaciones en genes que regulan los pasos de la respuesta inmunitaria innata. Son poco frecuentes y típicamente se inician en la infancia. Se manifiestan con episodios recurrentes de cuadros inflamatorios sistémicos representados por fiebre, artritis y lesiones inflamatorias cutáneas en ausencia de patógenos, autoanticuerpos circulantes o linfocitos T antígeno específico, lo cual las diferencia de las enfermedades autoinmunes. Las manifestaciones cutáneas pueden en algunos casos representar los hallazgos clínicos principales de las enfermedades autoinflamatorias. Con respecto a la fisiopatogenia, si bien aún no está totalmente esclarecida, es sabido que existe una disregulación del sistema inmunitario innato que lleva a una hiperinflamación sistémica.

REFERENCIAS (EN ESTE ARTÍCULO)

1. De Jesus AA, Goldbach-Mansky R. Genetically defined autoinflammatory diseases. Oral Dis. 2016; 22: 591-604.

2. Russo RA, Katsicas MM. Enfermedades autoinflamatorias. Medicina (B. Aires). 2016; 76: 166-172.

3. de Jesus AA, Canna SW, Liu Y, Goldbach-Mansky R. Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling. Annu Rev Immunol. 2015; 33: 823-874.

4. Moghaddas F, Masters SL. Monogenic autoinflammatory diseases: cytokinopathies. Cytokine 2015; 74: 237-246.

5. Beer HD, Contassot E, French LE. The inflammasomes in autoinflammatory diseases with skin involvement. J Invest Dermatol. 2014; 134: 1805-1810.

6. Krause K, Grattan CE, Bindslev-Jensen C, Gattorno M, Kallinich T, de Koning HD et al. How not to miss autoinflammatory diseases masquerading as urticaria. Allergy. 2012; 67: 1465-1474.

7. Simon A, Asli B, Braun-Falco M, De Koning H, Fermand JP, Grattan C et al. Schnitzler’s syndrome: diagnosis, treatment, and follow-up. Allergy. 2013; 68: 562-568.

8. Iglesias A, Panqueva U, Toro C, Mejía J, Rondón F, Restrepo JF y cols. Enfermedad de Still: una perspectiva histórica y una revisión actual. Rev Colomb Reumatol. 2008; 15: 197-206.

9. Díez MC, Pantoja ZL. Aspectos actuales de la enfermedad de Still del adulto. Med Clin (Barc). 2014; 142: 29-32.

10. Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U et al. An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med. 2009; 360: 2438-2444.

11. Naik HB, Cowen EW. Autoinflammatory pustular neutrophilic diseases. Dermatol Clin. 2013; 31: 405-425.

12. Cowen EW, Goldbach-Mansky R. DIRA, DITRA, and new insights into pathways of skin inflammation: what’s in a name? Arch Dermatol. 2012; 148: 381-384.

13. Onoufriadis A, Simpson MA, Pink AE, Di Meglio P, Smith CH, Pullabhatla V et al. Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. Am J Hum Genet. 2011; 89: 432-437.

14. Jordan CT, Cao L, Roberson ED, Pierson KC, Yang C, Joyce CE et al. PSORS2 is due to mutations in CARD14. Am J Hum Genet. 2012; 90: 784-795.

15. Polat A, Demirkaya E, Basbozkurt G, Gattorno M, Ozen S. A glance at history and future perspectives of childhood autoinflammatory disorders. Ann Paediatr Rheum. 2012; 1: 17-30.

16. Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S et al. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet. 2002; 11:961-969.

17. Padeh S, Brezniak N, Zemer D, Pras E, Livneh A, Langevitz P et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome. J Pediatr. 1999; 135: 98-101.

18. Gurung P, Kanneganti TD. Autoinflammatory skin disorders: the inflammasomme in focus. Trends Mol Med. 2016; 22: 545-564.

19. Gül A. Approach to the patients with inadequate response to colchicine in familial mediterranean fever best pract. Res Clin Rheumatol. 2016; 30: 1-8.

20. Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre-Sanchez GA et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014; 371: 507-518.

21. Kim H, Montealegre SG, Goldbach-Mansky R. Insights from mendelian interferonopathies: comparison of CANDLE, SAVI with AGS, monogenic lupus. J Mol Med. 2016; 10: 1111-1127.

22. Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet. 2007; 80: 811-815.

23. Cavalcante MP, Brunelli JB, Miranda CC, Novak GV, Malle L, Aikawa NE et al. CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation. Eur J Pediatr. 2016; 175: 735-740.

24. Kahlenberg JM. Anti-inflammatory panacea? The expanding therapeutics of interleukin-1 blockade. Curr Opin Rheumatol. 2016; 28: 197-203.

25. Galimberti RL, Vacas AS, Bollea GM, Torre AC. The role of interleukin-1β in pyoderma gangrenosum. JAAD Case Rep. 2016; 2 (5): 366-368. doi: 10.1016/j.jdcr.2016.07.007 PMCID: PMC5043387

26. Ostring GT, Singh GD. Periodic fevers and autoinflammatory syndromes in childhood. J Paediatr Child Health. 2016; 52: 865-871.

27. ter Haar NM, Oswald M, Jeyaratman J, Anton J, Barron KS, Brogan PA et al. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis. 2015; 74: 1636-1644.

28. Leslie KS, Lachmann HJ, Bruning E, McGrath JA, Bybee A, Gallimore JR et al. Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol. 2006; 142: 1591-1597.

29. Sibley CH, Plass N, Snow J, Wiggs EA, Brewer CC, King KA et al. Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes. Arthritis Rheum. 2012; 64: 2375-2386.

30. Yokota S, Kikuchi M, Nozawa T, Kisawa T, Kanetaka T, Miyamae T et al. An approach to the patients with cryopyrin-associated periodic syndrome (CAPS): a new biologic response modifier, canakinumab. Nihon Rinsho Meneki Gakkai Kaishi. 2012; 35: 23-29.