Гранулематозное поражение кожи как проявление первичного иммунодефицитного состояния у детей.

Cover Page

Cite item

Full Text

Abstract

Первичные иммунодефицитные состояния (ПИДС) представляют собой генетически гетерогенную группу заболеваний из более 400 нозологий. Традиционно ПИДС проявляются повышенной восприимчивоcтью к различного рода инфекционным заболеваниям. Тем не менее в последние десятилетие все большее значение приобретают неинфекционные осложнения связанные с дисрегуляцией и аутоиммунными расстройствами. У пациентов с ПИДС часто встречаются кожные проявления, и являются одним из признаков, позволяющих заподозрить диагноз иммунодефицита в раннем детстве. При этом одним из наименее изученных кожных проявлений ПИДС являются гранулематозный дерматит. Данный обзор посвящен обобщению данных исследований патогенеза, методов диагностики и терапии гранулематозного дерматита у пациентов с различными ПИДС

About the authors

ГБУ РО "Областная детская клиническая больница" Ростов-на-дону

Author for correspondence.
Email: seleznevaolga79@gmail.com
ORCID iD: 0000-0003-1907-4168
Врач аллерголог-иммунолог, отделения гематологии и онкологии с х/т, в детской областной клинической больнице г.Ростова на Дону. Являюсь также главным внештатным специалистом по детской аллергологии и иммунологии МЗ РО. Russian Federation

References

  1. Иммунология детского возраста. Практическое руководство по детским болезням. Под ред. А.Ю. Щербины и Е.Д. Пашанова. М.: Медпрактика-М, 2006. [Childhood Immunology. A practical guide to children’s illnesses. Ed.: A.Yu. Shcherbina, Ye.D. Pashanov. M.: Medpraktika-M, 2006. (In Russ.)]
  2. Picard C, Bobby Gaspar H, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, et al. International Union of Immunological Societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity. J Clin Immunol. 2018;38(1):96–128.
  3. Bousfiha A, Jeddane L, Picard C, et al. Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. J Clin Immunol. 2020;40(1):66–81.
  4. Tangye SG, Al-Herz W, Bousfiha A, et al. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee [published correction appears in J Clin Immunol. 2020 Feb 22;. J Clin Immunol. 2020;40(1):24–64.
  5. Bousfiha A, Jeddane L, Picard C, et al. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2018;38(1):129–143. doi: 10.1007/s10875-017-0465-8
  6. Sharma D, Jindal AK, Rawat A, Singh S. Approach to a Child with Primary Immunodeficiency Made Simple. Indian Dermatol Online J. 2017;8(6):391–405.
  7. Kuzmenko N.B., Shcherbina A.Y. Classification of primary immunodeficiencies as a reflection of modern ideas about their pathogenesis and therapeutic approaches. Russian Journal of Pediatric Hematology and Oncology. 2017;4(3):51-57. (In Russ.)
  8. Продуктивное воспаление: руководство для врачей. Повзун С.А. - Санкт-Петербург: спецЛит,2018, 359с. ISBN978-5-299-00937-8,
  9. Elbaz T, Esmat G. Hepatic and intestinal schistosomiasis: review. J Adv Res. (2013) 4:445–52.
  10. Wilson MS, Mentink-Kane MM, Pesce JT, Ramalingam TR, Thompson R, Wynn TA. Immunopathology of schistosomiasis. Immunol Cell Biol. (2007) 85:148–54.
  11. Martín-Callizo C, Marcoval J, Penín RM. Granulomatous Reactions to Red Tattoo Pigments: A Description of 5 Cases. Actas Dermosifiliogr. 2015;106(7):588-590.
  12. Molina-Ruiz AM, Requena L (2015) Foreign body granulomas. Dermatol Clin 33(3):497–523.)
  13. Piette EW, Rosenbach M (2016) Granuloma annulare: pathogenesis, disease associations and triggers, and therapeutic options. J Am Acad Dermatol 75(3):467–479.)
  14. Mangold AR, Cumsky HJL, Costello CM, et al. Clinical and histopathologic features of paraneoplastic granuloma annulare in association with solid organ malignancies: A case-control study. J Am Acad Dermatol. 2018;79(5):913-920.e1.
  15. Wanat KA, Elenitsas R, Kim EJ, Rosenbach M. Granuloma annulare associated with cutaneous marginal zone lymphoma: a case linking a hematologic malignancy with granulomatous dermatitis. Am J Dermatopathol. 2012;34(8):844-846.
  16. Valeyre D, Prasse A, Nunes H, Uzunhan Y, Brillet P-Y, Müller-Quernheim J. Sarcoidosis. Lancet. (2014) 383:1155–67.
  17. Caso F, Galozzi P, Costa L, Sfriso P, Cantarini L, Punzi L. Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease. RMD Open. 2015;1(1):e000097. Published 2015 Jul 20.
  18. Lo Schiavo A, Ruocco E, Gambardella A, O’Leary RE, Gee S (2014) Granulomatous dysimmune reactions (sarcoidosis, granuloma annulare, and others) on differently injured skin areas. Clin Dermatol 32(5):646–653.)
  19. Chua-Aguilera CJ, Möller B, Yawalkar N (2017) Skin manifestations of rheumatoid arthritis, juvenile idiopathic arthritis, and spondyloarthritides. Clin Rev Allergy Immunol 53(3):371–393.
  20. Fischer A, Provot J, Jais JP, Alcais A, Mahlaoui N; members of the CEREDIH French PID study group. Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2017;140(5):1388-1393.e8.)
  21. Schuetz C, Huck K, Gudowius S, Megahed M, Feyen O, Hubner B, et al. An immunodeficiency disease with RAG mutations and granulomas. N Engl J Med. 2008;358:2030–2038 (ESID Registry - Working Definitions for Clinical Diagnosis of PID. (2014).A vailable online at:
  22. ESID Registry – Working Definitions for Clinical Diagnosis of PID https://esid.org/content/download/13053/372959/file/ESIDRegistry_ClinicalCriteria2014.pdf (accessed December 15, 2019)
  23. Asai J (2017) What is new in the histogenesis of granulomatous skin diseases? J Dermatol 44(3):297–303.)
  24. Terziroli Beretta-Piccoli, B., Mainetti, C., Peeters, M. et al. Cutaneous Granulomatosis: a Comprehensive Review. Clinic Rev Allerg Immunol 54, 131–146 (2018).
  25. Wilson JL, Mayr HK and Weichhart T (2019) Metabolic Programming of Macrophages: Implications in the Pathogenesis of Granulomatous Disease. Front. Immunol. 10:2265.
  26. Girgis NM, Gundra UM, Ward LN, Cabrera M, Frevert U, Loke P. Ly6C(high) monocytes become alternatively activated macrophages in schistosome granulomas with help from CD4+ cells. PLoS Pathog. (2014) 10:e1004080.
  27. Silva DAAD, Silva MVD, Barros CCO, et al. TNF-α blockade impairs in vitro tuberculous granuloma formation and down modulate Th1, Th17 and Treg cytokines. PLoS One. 2018;13(3):e0194430. Published 2018 Mar 15.
  28. Boros DL (2013) New perspectives on ancient granulomas. Front Immunol 4:345. https://doi.org/10.3389/fimmu.2013.00345
  29. Li X, Körner H, Liu X. Susceptibility to Intracellular Infections: Contributions of TNF to Immune Defense. Front Microbiol. 2020;11:1643. Published 2020 Jul 15.
  30. Timmermans WM, van Laar JA, van Hagen PM, van Zelm MC. Immunopathogenesis of granulomas in chronic autoinflammatory diseases. Clin Transl Immunology. 2016;5(12):e118. Published 2016 Dec 16.
  31. Huang Z, Luo Q, Guo Y et al . Mycobacterium tuberculosis ‐induced polarization of human macrophage orchestrates the formation and development of tuberculous granulomas in vitro. PLoS ONE 2015; 10: e0129744.
  32. Essandoh K, Li Y, Huo J, Fan GC. MiRNA-Mediated Macrophage Polarization and its Potential Role in the Regulation of Inflammatory Response. Shock. 2016;46(2):122-131.
  33. Jetten N, Roumans N, Gijbels MJ, et al. Wound administration of M2-polarized macrophages does not improve murine cutaneous healing responses. PLoS One. 2014;9(7):e102994. Published 2014 Jul 28.)
  34. Kumar R, Singh P, Kolloli A, et al. Immunometabolism of Phagocytes During Mycobacterium tuberculosis Infection. Front Mol Biosci. 2019;6:105. Published 2019 Oct 14.
  35. Wojtan P, Mierzejewski M, Osinska I, Domagala-Kulawik J. Macrophage polarization in interstitial lung diseases. Cent Eur J Immunol 2016; 41: 159–164.
  36. Mattila JT, Ojo OO, Kepka-Lenhart D, et al. Microenvironments in tuberculous granulomas are delineated by distinct populations of macrophage subsets and expression of nitric oxide synthase and arginase isoforms. J Immunol. 2013;191:773–784.
  37. Khan A, Singh VK, Hunter RL, Jagannath C. Macrophage heterogeneity and plasticity in tuberculosis. J Leukoc Biol. 2019;106(2):275-282.
  38. Terziroli Beretta-Piccoli, B., Mainetti, C., Peeters, M. et al. Cutaneous Granulomatosis: a Comprehensive Review. Clinic Rev Allerg Immunol 54, 131–146 (2018).
  39. Wick MR. Granulomatous & histiocytic dermatitides. Semin Diagn Pathol. 2017;34(3):301-311.
  40. Ito T, Connett JM, Kunkel SL, Matsukawa A (2013) The linkage of innate and adaptive immune response during granulomatous development. Front Immunol 4:10.
  41. Norouzi S, Aghamohammadi A, Mamishi S, Rosenzweig SD, Rezaei N. Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases. J Infect. 2012;64(6):543-554.
  42. Clay H, Volkman HE, Ramakrishnan L. Tumor necrosis factor signaling mediates resistance to mycobacteria by inhibiting bacterial growth and macrophage death. Immunity 2008; 29: 283–294
  43. Ho HE, Cunningham-Rundles C. Non-infectious Complications of Common Variable Immunodeficiency: Updated Clinical Spectrum, Sequelae, and Insights to Pathogenesis. Front Immunol. 2020;11:149. Published 2020 Feb 7.
  44. Kamphuis LS, van Zelm MC, Lam KH, Rimmelzwaan GF, Baarsma GS, Dik WA et al. Perigranuloma localization and abnormal maturation of B cells: emerging key players in sarcoidosis? Am J Respir Crit Care Med 2013; 187: 406–416.
  45. Imadojemu S, Rosenbach M. Advances in Inflammatory Granulomatous Skin Diseases. Dermatol Clin. 2019;37(1):49–64.
  46. Takeda, K. and Akira, S. 2015. Toll‐Like Receptors. Curr. Protoc. Immunol. 109: 14.12.1– 14.12.10. doi: 10.1002/0471142735.im1412s109
  47. Schmitt A, Volz A. Non-infectious granulomatous dermatoses. J Dtsch Dermatol Ges. 2019;17(5):518–533.
  48. Holl-Ulrich K, Rose C. Nichtinfektiöse granulomatöse Entzündungen: Schwerpunkt Lunge und Haut [Non-infectious granulomatous inflammation: Focus on the lungs and skin]. Pathologe. 2016;37(2):172–182.
  49. Moghaddas F, Masters SL. The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders. Clin Sci (Lond). 2018;132(17):1901-1924. Published 2018 Sep 5. doi: 10.1042/CS20171498
  50. de Jesus AA, Goldbach-Mansky R. Genetically defined autoinflammatory diseases. Oral Dis. 2016;22(7):591–604.
  51. McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97(1):133–144.
  52. Gandhi C, Healy C, Wanderer AA, Hoffman HM. Familial atypical cold urticaria: description of a new hereditary disease. J Allergy Clin Immunol. 2009;124:1245–1250.
  53. Hernández-Ostiz S, Xirotagaros G, Prieto-Torres L, Noguera-Morel L, Torrelo A. Enfermedades autoinflamatorias en dermatología pediátrica. Parte 2: síndromes histiocítico-macrofágicos y síndromes vasculopáticos. Actas Dermosifiliogr. 2017;108:620–629.
  54. Rose CD, Martin TM, Wouters CH. Blau syndrome revisited. Curr Opin Rheumatol. 2011;23(5):411–418.
  55. Figueras-Nart I, Mascaró JM Jr, Solanich X, Hernández-Rodríguez J. Dermatologic and Dermatopathologic Features of Monogenic Autoinflammatory Diseases. Front Immunol. 2019;10:2448. Published 2019 Oct 29.
  56. Ombrello MJ, Remmers EF, Sun G, et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med. 2012;366(4):330–338.
  57. Zhou Q, Lee GS, Brady J, et al. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet. 2012;91(4):713–720.
  58. Novice T, Kariminia A, Del Bel KL, et al. A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases. J Clin Immunol. 2020;40(2):267–276.
  59. Parackova, Z., Bloomfield, M., Vrabcova, P. et al. Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency. J Clin Immunol 40, 165–178 (2020).
  60. Aderibigbe OM, Priel DL, Lee C-CR, Ombrello MJ, Prajapati VH, Liang MG, et al. Distinct cutaneous manifestations and cold-induced leukocyte activation associated with PLCG2 mutations. JAMA Dermatol. (2015) 151:627–34. 10.1001

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) 2020 .

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.