Ações clínicas em paciente com imunodeficiência por mutação AD com ganho de função (GOF) no gene STAT1: relato de caso
DOI:
https://doi.org/10.34119/bjhrv7n2-305Keywords:
fator de transcrição STAT1, mutação somática, doenças do sistema imunológicoAbstract
O estudo tem por objetivo relatar um caso clínico para obter conhecimentos detalhados, concedendo subsídios para a decisão da melhor estratégia para resolver ou reverter os problemas identificados. Nisso, trata-se de um estudo de caso que segue as orientações do Case Report (CARE), e o fluxograma foi utilizado para apresentar o caso de acordo com o modelo de Equator Network. Quanto aos resultados, os dados deste estudo foram então submetidos a uma tabulação em formato de fluxograma analítico onde os achados foram sintetizados e dispostos organizadamente, para melhor exposição das informações em fluxogramas. Com isso, a discussão dos resultados foi elaborada de forma descritiva, onde foi possível ser efetuada a: Avaliação inicial do paciente; Intervenções terapêuticas iniciais; Acompanhamento e Avaliação de Resultados e Intervenções. Assim, este estudo obteve um vasto conjunto de conhecimentos detalhados referentes a pacientes com STAT1 GOF.
References
ADAMKOVA, L.; SOUCKOVA, K.; KOVARIK, J. Transcription protein STAT1: biology and relation to cancer. Folia biologica, v. 53, n. 1, p. 1, 2007.
AL SHEHRI, Tariq et al. Novel gain-of-function mutation in Stat1 sumoylation site leads to CMC/CID phenotype responsive to ruxolitinib. Journal of clinical immunology, v. 39, p. 776-785, 2019. https://doi.org/10.1007/s10875-019-00687-4
BLOOMFIELD, Markéta et al. Utility of ruxolitinib in a child with chronic mucocutaneous candidiasis caused by a novel STAT1 gain-of-function mutation. Journal of clinical immunology, v. 38, p. 589-601, 2018. https://doi.org/10.1007/s10875-018-0519-6
BURNS, Charlotte et al. A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation—a case report and review of the literature. The Journal of Allergy and Clinical Immunology: In Practice, v. 4, n. 4, p. 777-779, 2016. https://doi.org/10.1016/j.jaip.2016.02.015
CHAPGIER, Ariane et al. Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS genetics, v. 2, n. 8, p. e131, 2006. https://doi.org/10.1371/journal.pgen.0020131
CHAPGIER, Ariane et al. Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS genetics, v. 2, n. 8, p. e131, 2006. https://doi.org/10.1371/journal.pgen.0020131
CHAPGIER, Ariane et al. Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo. The Journal of Immunology, v. 176, n. 8, p. 5078-5083, 2006. https://doi.org/10.4049/jimmunol.176.8.5078
DUPUIS, Stéphanie et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science, v. 293, n. 5528, p. 300-303, 2001. https://doi.org/10.1126/science.1061154
DUPUIS, Stéphanie et al. Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency. Nature genetics, v. 33, n. 3, p. 388-391, 2003. https://doi.org/10.1038/ng1097
IMADA, Kazuroni; LEONARD, Warren J. The jak-STAT pathway. Molecular immunology, v. 37, n. 1-2, p. 1-11, 2000. https://doi.org/10.1016/s0161-5890(00)00018-3
IVASHKIV, Lionel B. IFNγ: signalling, epigenetics and roles in immunity, metabolism, disease and cancer immunotherapy. Nature Reviews Immunology, v. 18, n. 9, p. 545-558, 2018. https://doi.org/10.1038/s41577-018-0029-z
KISSELEVA, Tatiana et al. Signaling through the JAK/STAT pathway, recent advances and future challenges. Gene, v. 285, n. 1-2, p. 1-24, 2002. https://doi.org/10.1016/s0378-1119(02)00398-0
LIU, Luyan et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. Journal of Experimental Medicine, v. 208, n. 8, p. 1635-1648, 2011. https://doi.org/10.1084/jem.20110958
LORENZINI, Tiziana et al. STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases. Journal of Leucocyte Biology, v. 101, n. 1, p. 29-38, 2017. https://doi.org/10.1189/jlb.5RI0516-237RR
MORIYA, Kunihiko et al. Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation. International journal of hematology, v. 112, p. 258-262, 2020. https://doi.org/10.1007/s12185-020-02860-7
OKADA, Satoshi et al. Human STAT1 gain-of-function heterozygous mutations: chronic mucocutaneous candidiasis and type I interferonopathy. Journal of clinical immunology, v. 40, p. 1065-1081, 2020. https://doi.org/10.1007/s10875-020-00847-x
OLIVEIRA, Maraísa Finotto et al. Impactos da tecnologia na área médica. Brazilian Journal of Health Review, v. 6, n. 4, p. 16550-16561, 2023.
RILEY, David S. et al. CARE guidelines for case reports: explanation and elaboration document. Journal of clinical epidemiology, v. 89, p. 218-235, 2017. https://doi.org/10.1016/j.jclinepi.2017.04.026
SILVA, Luciana Mota et al. Immunohistochemical analysis of the expression of cellular transcription NFκB (p65), AP-1 (c-Fos and c-Jun), and JAK/STAT in leprosy. Human Pathology, v. 46, n. 5, p. 746-752, 2015. https://doi.org/10.1016/j.humpath.2015.01.015
ROCHA, Lucas Barone et al. Iniciação científica no curso de medicina: contribuições e desafios. Brazilian Journal of Health Review, v. 2, n. 6, p. 5445-5456, 2019.
STARK, George R.; DARNELL, James E. The JAK-STAT pathway at twenty. Immunity, v. 36, n. 4, p. 503-514, 2012. https://doi.org/10.1016/j.immuni.2012.03.013
THE CARE Guidelines: Consensus-based Clinical Case Reporting Guideline Development | EQUATOR Network. (2013). Equator-Network.org. https://www.equator-network.org/reporting-guidelines/care/
TOUBIANA, Julie et al. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood, The Journal of the American Society of Hematology, v. 127, n. 25, p. 3154-3164, 2016. https://doi.org/10.1182/blood-2015-11-679902
VAIRO, Donatella et al. Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation. Blood, The Journal of the American Society of Hematology, v. 118, n. 7, p. 1806-1817, 2011. https://doi.org/10.1182/blood-2011-01-330571
VAN DE VEERDONK, Frank L. et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. New England Journal of Medicine, v. 365, n. 1, p. 54-61, 2011. https://doi.org/10.1056/NEJMoa1100102
WMA - The World Medical Association-WMA Declaration of Helsinki – Ethical Principles for Medical Research Involving Human Subjects. (2014). Wma.net; WMA - The World Medical Association-WMA Declaration of Helsinki – Ethical Principles for Medical Research Involving Human Subjects. https://www.wma.net/policies-post/wma-declaration-of-helsinki-ethical-principles-for-medical-research-involving-human-subjects/
YING, Wenjing et al. Current status of the management of Mendelian susceptibility to mycobacterial disease in Mainland China. Journal of clinical immunology, v. 39, p. 600-610, 2019. https://doi.org/10.1007/s10875-019-00672-x
ZHANG, Wenjing et al. Clinical relevance of gain-and loss-of-function germline mutations in STAT1: a systematic review. Frontiers in Immunology, v. 12, p. 654406, 2021. https://doi.org/10.3389/fimmu.2021.654406
