Déficit del antagonista en el receptor de la interleucina 36 (DITRA) / Interleukin-36 receptor antagonist deficiency

Yanet Romero Reinaldo, Santa Yarelis Gómez Conde, Laydenis María del Toro Ravelo, Kerly González Gómez, Jenrry Alvarez Cruz

Texto completo:

HTML

Resumen

Introducción: Las enfermedades autoinflamatorias forman un grupo de inmunodeficiencias primarias que se caracterizan por crisis inflamatorias generalizadas y recurrentes, en ausencia de etiología infecciosa, autoinmune y neoplásica. El síndrome por déficit del antagonista en el receptor de la IL-36, es una enfermedad monogénicas autosómica recesiva, debida a mutaciones con pérdida de función del gen IL-36 RN, que codifica para el antagonista del receptor de la interleucina 36.
Objetivo: Describir los elementos esenciales para el diagnóstico del síndrome por déficit del antagonista en el receptor de la interleucina 36.
Métodos: Se realizó una revisión de artículos publicados en las bases de datos PubMed, MEDLINE, SciELO, Scopus, Lilacs y BVS.
Enfermedades autoinflamatorias y su clasificación: Se distinguen tres grandes grupos; síndromes relacionados con el inflamosoma (son los más frecuentes), síndromes no relacionados con el inflamosoma y las interferonopatías.
Deficiencias del antagonista en el receptor de IL-36 (DITRA): Es una enfermedad monogénicas autosómica recesiva, debida a mutaciones con pérdida de función del gen IL-36 RN, que codifica para el antagonista del receptor de la interleucina 36.
Manifestaciones clínicas del DITRA: Se caracteriza por manifestaciones de psoriasis pustulosa, fiebre, distrofia ungueal, artritis y colangitis.
Diagnóstico de las enfermedades autoinflamatorias: Debe estar guiado por el reconocimiento de signos clínicos, presencia de reactante de fase aguda, patrón de herencia, edad de comienzo, origen étnico y estudio genético.
Tratamiento de la DITRA: Es difícil. los pacientes requieren el uso de terapia biológica. Otra modalidad terapéutica novedosa es la aféresis de absorción de granulocitos y monocitos.
Conclusiones: La deficiencia del antagonista en el receptor de la interleucina 36 es una enfermedad infrecuente y su diagnóstico es complejo. Fármacos monoclonales han sido exitosos en algunos pacientes y presentan un perfil de seguridad superior a los anti-TNF y los inhibidores de la IL-1.

Palabras clave

respuesta inflamatoria innata; fiebre; artritis, interleucina; psoriasis.

Referencias

Hospach T, Glowatzki F, Blankenburg F, Conzelmann D, Stirnkorb C, Müllerschön CH, et al. Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents. Pediatr Rheumatol [Internet]. 2019; 37(2). [Access: 28/05/2022]. Available from: https://doi.org/10.1186/s12969-019-0338-1.

Gómez García F, Sanz Cabanillas JL, VigueraGuerra I, Isla Tejera B, Vélez García Nieto A, Ruano J. Scoping Review on Use of Drugs Targeting Interleukin 1 Pathway in DIRA and DITRA. Dermatol Ther (Heidelb) [Internet]. 2018; 8(1): 539–556. [Access: 28/05/2022]. Available from: https://doi.org/10.1007/s13555-018-0269-7

Zea Vera AF, Estupiñan Lopez FE, Cifuentes Burbano J, Vargas MJ, Bonelo A. Interleukin-36 Receptor Antagonist Deficiency (DITRA) with a Novel IL36RN Homozygous Mutation c.200G > T (P.Cys67Phe) in a Young Colombian Woman. J Clin Immunol [Internet].2019; 39(7):261–263. [Access: 28/05/2022]. Available from: https://doi.org/10.1007/s10875-019-00622-7

Bozonnat A, Assan F, LeGoff J, Bourrat E, Bachelez H. SARS-CoV-2 infection inducing severe flare up of Deficiency of Interleukin Thirty-six (IL-36) Receptor Antagonist (DITRA) resulting from a mutation invalidating the activating cleavage site of the IL-36 receptor antagonist. J Clin Immunol [Internet]. 2021; 41(4):1511–1514. [Access: 28/05/2022]. Available from: https://doi.org/10.1007/s10875-021-01076-6

Guo J, Wang B, Zhang ZY. Rapid response to secukinumab in a 5-year-old with deficiency of the interleukin-36 receptor antagonist (DITRA) with severe scalp and nail involvement. Pediatric Dermatology [Internet]. 2021; 38(5):1258-1263. [Access: 28/05/2022]. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1111/pde.14737

Bonekamp N, Caorsi R, Viglizzo GM, de Graaf M, Minoia F, Grossi A, et al. High-dose ustekinumab for severe childhood deficiency of interleukin-36 receptor antagonist (DITRA). Annals of the Rheumatic Disease [Internet]. 2018; 77(8). [Access: 28/05/2022]. Available from: https://ard.bmj.com/content/77/8/1241.abstract

Diaz A. Deficiency of the Interleukin-36 Receptor Antagonist (DITRA) and Generalized Pustular Psoriasis. Auto-Inflammatory Syndromes [Internet]. 2019; 15(3):85-94. [Access: 28/05/2022]. Available from: https://doi.org/10.1007/978-3-319-96929-9_7

Bal E, Ching Lim A, Shen M, Douangpanya J, Madrange M, Gazah R, et al. Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36-receptor antagonist and is associated with DITRA syndrome. Experimental dermatology [Internet]. 2017; 28(10). [Access: 28/05/2022]. Available from: https://onlinelibrary.wiley.com/doi/full/10.1111/exd.13387

Morgado Carrasco D, Podlipnik S, Mascaró JM. Woronoff Ring in Deficiency of Interleukin-36 Receptor Antagonist (DITRA). Dermatol Pract Concept [Internet]. 2020; 10(1): e2020008. [Access: 28/05/2022]. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6936645/#

Espíndola ACVD, Casimiro FMS, Pesquero JB, Magalhães RF. Extensive Deep Venous Thrombosis in a Patient with Interleukin-36 Receptor Antagonist Deficiency (DITRA): A Case Report. Archives of Clinical and Medical Case Reports [Internet]. 2019; 3(2): 600-604. [Access: 28/05/2022]. Available from: https://fortunepublish.com/articles/extensive-deep-venous-thrombosis-in-a-patient-with-interleukin36-receptor-antagonist-deficiency-ditra-a-case-report.html

Babic V, Moawad S, Bursztejn AC, Schmutz JC. DITRA syndrome in a Vietnamese patient: efficacy of etanercept. European Journal of Dermatology [Internet]. 2018; 28(2):243-244. [Access: 28/05/2022]. Available from: https://www.jle.com/fr/revues/ejd/e-docs/ditra_syndrome_in_a_vietnamese_patient_efficacy_of_etanercept_311301/article.phtml

Po Han H, Tsen Fang T. Successful treatment of refractory juvenile generalized pustular psoriasis with secukinumab monotherapy: A case report and review of published work. The Journal of Dermatology [Internet].2018; 45(11): 1353-1356. [Access: 28/05/2022]. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1111/1346-8138.14636

Castaño A, Velázquez MM. Psoriasis pustulosa generalizada: de la inmunopatogénesis a la clínica. Revistasocolderma. 2017;25(2): 130-142. [Acceso: 28/05/2022]. Disponible en: https://mail.revista.asocolderma.org.co/index.php/asocolderma/article/download/9/7/

Salik D, Zoghaib S, Dangoisse C, Sass U, Kolivras A, Soblet J, Vilain C. New variant in deficiency of interleukin-36 receptor antagonist syndrome (DITRA). Int J Dermatol [Internet]. 2021; 60(1): 899-900. [Access: 28/05/2022]. Available from: https://doi.org/10.1111/ijd.15522

Yachen W; Zhenhua Z; Zigang X. Research progress of deficiency of interleukin-36 receptor antagonist and cutaneous sterile pustulosis. Chinese Journal of Applied Clinical Pediatrics [Internet]. 2021; (24): 1598-1600. [Access: 28/05/2022]. Available from: https://pesquisa.bvsalud.org/portal/resource/pt/wpr-908021

Watanabe S, Iwata Y, Fukushima H, Saito K, Tanaka Y, Hasegawa Y, et al. Neutrophil extracellular traps are induced in a psoriasis model of interleukin-36 receptor antagonist-deficient mice. Sci Rep [Internet]. 2020; 10(3): 20149. [Access: 28/05/2022]. Available from: https://doi.org/10.1038/s41598-020-76864-y

Buhl AL, Wenzel J. Interleukin-36 in infectious and inflammatory skin diseases. Front. Immunol [Internet]. 2019; 10: 1–11. [Access: 28/05/2022]. Available from: https://doi.org/10.3389%2Ffimmu.2019.01162

Di Domizio J, Gilliet M. Psoriasis caught in the NET. J. Invest. Dermatol [Internet]. 2019; 139(4): 1426–1429. [Access: 28/05/2022]. Available from: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=31230639

Fujii A, Ohnishi H, Seishima M. Generalized Pustular Psoriasis With IL-36 Receptor Antagonist Mutation Successfully Treated With Granulocyte and Monocyte Adsorption Apheresis Accompanied by Reduced Serum IL-6 Level. Therapeutics Apheresis [Internet]. 2018; 22(1):992-93. [Access: 28/05/2022]. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1111/1744-9987.12596

Bachelez H. Pustular psoriasis and related pustular skin diseases. British Journal of Dermatology [Internet]. 2018; 173(3): 614-618. [Access: 28/05/2022]. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1111/bjd.16232

Sbidian E, Madrange M, Viguier M, Salmona M, Duchatelet S, Hovnanian A, et al. Respiratory virus infection triggers acute psoriasis flares across different clinical subtypes and genetic backgrounds. British Journal of Dermatology [Internet]. 2019; 181(6): 1204-1306. [Access: 28/05/2022]. Available from: https://onlinelibrary.wiley.com/doi/full/10.1111/bjd.18203

Hashkes PJ, Barron KS, Laxer R.M. Clinical Approach to the Diagnosis of Autoinflammatory Diseases. In: Hashkes P, Laxer R, Simon A. (eds) Textbook of Autoinflammation. Springer. 2019. [Access: 28/05/2022]. Available from: https://doi.org/10.1007/978-3-319-98605-0_11

Mahil SK, Barker JN, Capon F. Pustular Forms of Psoriasis Related to Autoinflammation. In: Hashkes P, Laxer R, Simon, A. (eds) Textbook of Autoinflammation. Springer [Internet]. 2019. [Access: 28/05/2022]. Available from: https://doi.org/10.1007/978-3-319-98605-0_26

Gulmus S, Berard R, Demirkaya E. Rare Monogenic Causes of Periodic Fevers. In: Cimaz R. (eds) Periodic and Non-Periodic Fevers. Rare Diseases of the Immune System. Springer [Internet]. 2020. [Access: 28/05/2022]. Available from: https://doi.org/10.1007/978-3-030-19055-2_15

Viguier M, Allez M, Zagdanski AM, Bertheau P, Kerviler E, Rybojad M, et al. High frequency of cholestasis in generalized pustular psoriasis: Evidence for neutrophilic involvement of the biliary tract. Hepatology [Internet]. 2004; 40(4): 452-458. [Access: 28/05/2022]. Available from: http://dx.doi.org/10.1002/hep.20305

Sidoroff A, Dunant A, Viboud C, Halevy S, Bavinck JNB, Naldi L, et al. Risk factors for acute generalized exanthematous pustulosis (AGEP) ‐ Results of a multinational case‐control study (EuroSCAR). Br J Dermatol. 2007; 157(6): 989-996. [Access: 28/05/2022]. Available from: http://dx.doi.org/10.1111/j.1365-2133.2007.08156.x

De la Rosa Santana J, Calas Torres J. Enfermedades autoinflamatorias. Un reto para el pediatra. Revista Estudiantil HolCien [Internet]. 2021; 2 (1): [aprox. 03 p.]. [Acceso: 28/05/2022]. Disponible en: http://www.revholcien.sld.cu/index.php/holcien/article/view/69

Wang Q, Zhang L, Liu W. Clinical features of von Zumbusch type of generalized pustular psoriasis in children: A retrospective study of 26 patients in southwestern China. An Bras Dermatol. 2017;92(1): 319-322. [Access: 28/05/2022]. Available from: http://dx.doi.org/10.1590/abd1806-4841.20175536

Krainer J, Siebenhandl S, Weinhäusel A. Systemic autoinflammatory diseases. Journal of Autoimmunity [Internet]. 2020; 109(5). [Access: 28/05/2022]. Available from: https://www.sciencedirect.com/science/article/pii/S0896841120300329.

Di W, Min S, Qingping Y. Cutaneous manifestations of auto inflammatory diseases. Rheumatology and Immunology Research [Internet]. 2021; 2(4):34-56. [Access: 28/05/2022]. Available from: https://www.degruyter.com/document/doi/10.2478/rir-2021-0030/html

Kumar Katakam B, Munisamy M, Rao TN, Chiramel MJ, Panda M, Gupta S, et al. Recommendations for Management of Childhood Psoriasis. Indian Dermatol Online J [Internet]. 2021; 12(1): S71–S85. Access: 28/05/2022]. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8664175/#

URN: http://revcalixto.sld.cu/index.php/ahcgurn:nbn:de:0000-ahcg.v10i3.996

Enlaces refback

  • No hay ningún enlace refback.