Inmunodeficiencia primaria de inicio en el adulto: un desafío en cuidados críticos.
Palabras clave:
enfermedades de inmunodeficiencia primaria, citocinas, choque séptico
Resumen
Las inmunodeficiencias primarias o errores innatos de la inmunidad son trastornos de origen genético en donde un componente celular o humoral de la inmunidad innata o adaptativa está alterado generando principalmente una tendencia a las infecciones. Existen 485 errores innatos de la inmunidad distribuidos en diez categorías, la décima corresponde a las fenocopias, las cuales se producen por mutaciones somáticas o anticuerpos anti citocinas. En el siguiente reporte de caso presentamos un paciente que ingresó a la unidad de cuidados críticos por un choque séptico de origen pulmonar secundario a una inmunodeficiencia por fenocopia de la susceptibilidad a micobacterias y se hace una revisión de la literatura sobre esta entidad.
Citas
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2. Singh A, Jindal AK, Joshi V, Anjani G, Rawat A. An updated review on phenocopies of primary immunodeficiency diseases. Genes Dis [Internet]. 2020 [cited 2023 Jun 10];7(1):12–25. Available from: https://pubmed.ncbi.nlm.nih.gov/32181272. doi: 10.1016/j.gendis.2019.09.007
3. Chawansuntati K, Rattanathammethee K, Wipasa J. Minireview: Insights into anti-interferon-γ autoantibodies. Exp Biol Med (Maywood) [Internet]. 2021 [cited 2023 Jun 10];246(7):790–5. Available from: https://pubmed.ncbi.nlm.nih.gov/33430618. doi: 10.1177/1535370220981579
4. Ivashkiv LB. IFNγ: signalling, epigenetics and roles in immunity, metabolism, disease and cancer immunotherapy. Nat Rev Immunol [Internet]. 2018 [cited 2023 Jun 10];18(9):545–58. Available from: https://pubmed.ncbi.nlm.nih.gov/29921905. doi: 10.1038/s41577-018-0029-z
5. Mata-Espinosa DA, Hernández-Pando R. Interferón gamma: Aspectos básicos, importancia clínica y usos terapéuticos. Rev Invest Clin [Internet]. 2008 [citado 20 Jul 2023];60(5):421–31. Disponible en: https://www.medigraphic.com/pdfs/revinvcli/nn-2008/nn085i.pdf
6. Cortes-Acevedo P, Mendoza-Elvira SE, Döffinger R, Barcenas-Morales G. Secondary immunodeficiencies related to the presence of anti-cytokine autoantibodies. Gac Med Mex [Internet]. 2023 [cited 2023 Jun 10];159(2):154–60. Available from: https://pubmed.ncbi.nlm.nih.gov/37094237. doi: 10.24875/GMM.M23000760
7. Chen L, Chi H, Teng J, Meng J, Zhang H, Su Y, et al. Neutralizing anti-IFN-γ IgG was increased in patients with systemic lupus erythematosus and associated with susceptibility to infection. Clin Rheumatol [Internet]. 2024 [cited 2024 May 17];43(1):189–98. Available from: https://pubmed.ncbi.nlm.nih.gov/37857784. doi: 10.1007/s10067-023-06758-7
8. Peñafiel Vicuña AK, Yamazaki Nakashimada M, León Lara X, Mendieta Flores E, Nuñez Núñez ME, Lona-Reyes JC, et al. Mendelian susceptibility to mycobacterial disease: Retrospective clinical and genetic study in Mexico. J Clin Immunol [Internet]. 2023 [cited 2024 May 17] ;43(1):123–35. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9428379. doi: 10.1007/s10875-022-01357-8
9. Zhang B, Fan J, Huang Ch, Fan H, Chen J, Huang X, Zeng X. Characteristics and outcomes of anti-interferon gamma antibody-associated adult onset immunodeficiency. J Clin Immunol [Internet]. 2023 [cited 2024 May 17];43(7):1660–70. Available from: https://pubmed.ncbi.nlm.nih.gov/37365453. doi: 10.1007/s10875-023-01537-0
10. Browne SK, Burbelo PD, Chetchotisakd P, Suputtamongkol Y, Kiertiburanakul S, Shaw PA, et al. Adult-onset immunodeficiency in Thailand and Taiwan. N Engl J Med [Internet]. 2012 [cited 2023 Jun 10];367(8):725–34. Available from: https://pubmed.ncbi.nlm.nih.gov/22913682. doi: 10.1056/NEJMoa1111160
11. Wang H, Lei R, Ji Y, Xu W, Zhang K, Guo X. Multiple refractory intracellular pathogen infections in a human immunodeficiency virus-negative patient with anti-interferon-γ autoantibodies: a case report. BMC Infect Dis [Internet]. 2023 [cited 2024 May 17];23(1):493. Available from: https://pubmed.ncbi.nlm.nih.gov/37495965. doi: 10.1186/s12879-023-08404-8
12. Chen ZM, Yang XY, Li ZT, Guan WJ, Qiu Y, Li SQ, et al. Anti-Interferon-γ autoantibodies impair T-Lymphocyte responses in patients with Talaromyces marneffei infections. Infect Drug Resist [Internet]. 2022 [cited 2024 May 17];15:3381–93. Available from: https://pubmed.ncbi.nlm.nih.gov/35789796. doi: 10.2147/IDR.S364388
13. Towachiraporn S, Thongwitokomarn H, Salee P. Anti-interferon-gamma autoantibody and salmonellosis: Case report and literature review. IDCases [Internet]. 2024 [cited 2024 May 17];35:e01926. Available from: https://pubmed.ncbi.nlm.nih.gov/38298220. doi: 10.1016/j.idcr.2024.e01926
14. Grenier PA, Brun AL, Longchampt E, Lipski M, Mellot F, Catherinot E. Primary immunodeficiency diseases of adults: a review of pulmonary complication imaging findings. Eur Radiol [Internet]. 2024 [cited 2024 Jul 1];34(6):4142–54. Available from: https://pubmed.ncbi.nlm.nih.gov/37935849. doi: 10.1007/s00330-023-10334-7
