References
1. Mudde A.C.A., Booth C., Marsh R.A. Evolution of Our Understanding of XIAP Deficiency. Front Pediatr. 2021; 9: 660520. DOI: https://doi.org/10.3389/fped.2021.660520
2. Speckmann C., Lehmberg K., Albert M.H., Damgaard R.B., Fritsch M., Gyrd-Hansen M., Rensing-Ehl A., Vraetz T., Grimbacher B., Salzer U., Fuchs I., Ufheil H., Belohradsky B.H., Hassan A., Cale C.M., Elawad M., Strahm B., Schibli S., Lauten M., Kohl M., Meerpohl J.J., Rodeck B., Kolb R., Eberl W., Soerensen J., von Bernuth H., Lorenz M., Schwarz K., Zur Stadt U., Ehl S. X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol. 2013; 149 (1): 133–41. DOI: https://doi.org/10.1016/j.clim.2013.07.004
3. Basiaga M.L., Weiss P.F., Behrens E.M. BIRC4 Mutation: An Important Rare Cause of Uveitis. J Clin Rheumatol. 2015; 21 (8): 444–7. DOI: https://doi.org/10.1097/RHU.0000000000000327
4. Russian register of patients with primary immunodeficiency states analytical report. URL: https://naepid.ru/registr-pid/statistical-reports/ (date of access 14.12.2023)
5. Yang L., Booth C., Speckmann C., Seidel M.G., Worth A.J.J., Kindle G., Lankester A.C., Grimbacher B., ESID Clinical and Registry Working Parties, Gennery A.R., Seppanen M.R.J., Morris E.C., Burns S.O. Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency. J Allergy Clin Immunol. 2022; 150 (2): 456–66. DOI: https://doi.org/10.1016/j.jaci.2021.10.037
6. Laberko A.L., Starichkova Yu.V., Khismatullina R.D., Persiantseva M.I., Maschan M.A., Balashov D.N., Rumyantsev A.G. Optimization of hematopoietic stem cell transplantation planning using medical information system in children with primary immunodeficiencies. Immunologiya. 2021; 42 (1): 49–59. DOI: https://doi.org/10.33029/0206-4952-2021-42-1-49-59 (in Russian)
7. Tsuma Y., Imamura T., Ichise E., Sakamoto K., Ouchi K., Osone S., Ishida H., Wada T., Hosoi H. Successful treatment of idiopathic colitis related to XIAP deficiency with allo-HSCT using reduced-intensity conditioning. Pediatr Transplant. 2015; 19 (1): E25–8. DOI: https://doi.org/10.1111/petr.12405
8. Chinn I.K., Orange J.S. A 2020 update on the use of genetic testing for patients with primary immunodeficiency. Expert Rev Clin Immunol. 2020; 16 (9): 897–909. DOI: https://doi.org/10.1080/1744666X.2020.1814145
9. Pershin D.Е., Vedmedskaya V.А., Fadeeva M.S., Vladimirov I.S., Kulakovskaya E.A., Roppelt A.A., Kieva A.M., Raykina E.V., Rodina Yu.A., Maschan M.A., Shcherbina A.Yu. Verification of X-linked lymphoproliferative syndrome type 1 and 2 using a flow cytometry method. Pediatric Hematology/Oncology and Immunopathology. 2020; 19 (4): 108–18. DOI: https://doi.org/10.24287/1726-1708-2020-19-4-108-118 (in Russian)
10. Damgaard R.B., Nachbur U., Yabal M., Wong W.W., Fiil B.K., Kastirr M., Rieser E., Rickard J.A., Bankovacki A., Peschel C., Ruland J., Bekker-Jensen S., Mailand N., Kaufmann T., Strasser A., Walczak H., Silke J., Jost P.J., Gyrd-Hansen M. The ubiquitin ligase XIAP recruits LUBAC for NOD2 signaling in inflammation and innate immunity. Mol Cell. 2012; 46 (6): 746–58. DOI: https://doi.org/10.1016/j.molcel.2012.04.014
11. Negroni A., Pierdomenico M., Cucchiara S., Stronati L. NOD2 and inflammation: current insights. J Inflamm Res. 2018; 11: 49–60. DOI: https://doi.org/10.2147/JIR.S137606
12. Lebedeva E.S., Bagaev A.V., Garaeva A.Y., Chulkina M.M., Pichugin A.V., Ataullakhanov R.I. The cooperative interaction of TLR4-, TLR9- and NOD2-signaling pathways in mouse macrophages. Immunologiya. 2018; 39 (1): 4–11. DOI: http://dx.doi.org/10.18821/0206-4952-2018-39-1-4-11 (in Russian)
13. Dagil Yu.A., Pashenkov M.V. A comparison of three types of cell-based test systems for the assessment of biological activity of NOD2 receptor agonists. Immunologiya. 2020; 41 (4): 304–11. DOI: https://doi.org/10.33029/0206-4952-2020-41-4-304-311 (in Russian)
14. Topal Y., Gyrd-Hansen M. RIPK2 NODs to XIAP and IBD. Semin Cell Dev Biol. 2021; 109: 144–50. DOI: https://doi.org/10.1016/j.semcdb.2020.07.001
15. Nielsen O.H., LaCasse E.C. How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease. Genet Med. 2017; 19 (2): 133–43. DOI: https://doi.org/10.1038/gim.2016.82
16. Quaranta M., Wilson R., Gonçalves Serra E., Pandey S., Schwerd T., Gilmour K., Klenerman P., Powrie F., Keshav S., Travis S.P.L., Anderson C.A., Uhlig H.H. Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease. Gastroenterology. 2018; 155 (1): 231–4. DOI: https://doi.org/10.1053/j.gastro.2018.03.069
17. Roppelt A.A., Yukhacheva D.V., Myakova N.V., Smirnova N.V., Skvortsova Yu.V., Varlamova T.V., Raikina E.V., Abramov D.S., Ulanova N.B., Gabrusskaya T.V., Shcherbina A.Yu. X-Linked lymphoproliferative syndrome types 1 and 2. Vopr. gematol./onkol. immunopatol. pediatr. (Pediatric Haematology/Oncology and Immunopathology). 2016; 15 (1): 17–26. DOI: https://doi.org/10.20953/1726-1708-2016-1-17-26 (in Russian)
18. Pirozhkov S.V., Litvitskiy P.F. Inflammasomal diseases. Immunologiya. 2018; 39 (2-3): 158–65. DOI: http://dx.doi.org/10.18821/0206-4952-2018-39-2-3-158-165 (in Russian)
19. Ammann S., Elling R., Gyrd-Hansen M., Dückers G., Bredius R., Burns S.O., Edgar J.D., Worth A., Brandau H., Warnatz K., Zur Stadt U., Hasselblatt P., Schwarz K., Ehl S., Speckmann C. A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency. Clin Exp Immunol. 2014; 176 (3): 394–400. DOI: https://doi.org/10.1111/cei.12306
20. Tang J., Zhou X., Wang L., Hu G., Zheng B., Wang C., Lu Y., Jin Y., Guo H., Liu Z. Eosinophilic colitis in a boy with a novel XIAP mutation: a case report. BMC Pediatr. 2020; 20 (1): 171. DOI: https://doi.org/10.1186/s12887-020-02075-z
21. Chang I., Park S., Lee H.J., Kim I., Park S., Ahn M.K., Lee J., Kang M., Baek I.J., Sung Y.H., Pack C.G., Kang H.J., Lee K., Im H.J., Seo E.J., Kim K.M., Yang S.K., Song K., Oh S.H. Interpretation of XIAP Variants of Uncertain Significance in Paediatric Patients with Refractory Crohn’s Disease. J Crohns Colitis. 2021; 15 (8): 1291–304. DOI: https://doi.org/10.1093/ecco-jcc/jjab013
22. Ammann S., Fuchs S., Martin-Martin L., Castro C.N., Spielberger B., Klemann C., Elling R., Heeg M., Speckmann C., Hainmann I., Kaiser-Labusch P., Horneff G., Thalhammer J., Bredius R.G., Stadt U.Z., Lehmberg K., Fuchs I., von Spee-Mayer C., Henneke P., Ehl S. Functional flow cytometry of monocytes for routine diagnosis of innate primary immunodeficiencies. J Allergy Clin Immunol. 2020; 145 (1): 434–7.e4. DOI: https://doi.org/10.1016/j.jaci.2019.09.002
23. Schwerd T., Pandey S., Yang H.T., Bagola K., Jameson E., Jung J., Lachmann R.H., Shah N., Patel S.Y., Booth C., Runz H., Düker G., Bettels R., Rohrbach M., Kugathasan S., Chapel H., Keshav S., Elkadri A., Platt N., Muise A.M., Koletzko S., Xavier R.J., Marquardt T., Powrie F., Wraith J.E., Gyrd-Hansen M., Platt F.M., Uhlig H.H. Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn’s disease. Gut. 2017; 66 (6): 1060–73. DOI: https://doi.org/10.1136/gutjnl-2015-310382