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Revista alergia México
versão On-line ISSN 2448-9190
Resumo
MARTINEZ-MORALES, María Cecilia et al. Disseminated infection by M. tuberculosis complex in patient with IFN-γ receptor 1 complete deficiency. Rev. alerg. Méx. [online]. 2017, vol.64, n.4, pp.499-504. ISSN 2448-9190. https://doi.org/10.29262/ram.v64i4.329.
Background:
Several mutations have been described leading to impaired immunity in the IL-12/IFN-γ axis and, they confer susceptibility to mycobacterial infections. One of the more serious clinical phenotypes is secondary to mutations at IFN-γ receptor 1 gene, characterized by an early onset and more severe disease.
Case report:
We present a 3-month-old female patient with systemic M. tuberculosis complex who has a homozygous mutation, it affects the splicing site at IFNGR1 c.201-1G> T. At time of this report, she is with antimycobacterial treatment in the protocol of pluripotent hematopoietic cell transplantation (TCHP).
Conclusion:
It has been reported that antiphimic treatment should be maintained until the immune system is restored by the TCHP. If patients receive THCP before the age of 1 year old, they have a better prognosis. Diminish the levels of IFN-γ in plasma before the procedure is associated to better results.
Palavras-chave : IFN-γR1 deficiency; Mycobacteria; BCG; Primary immunodeficiency; Bone marrow transplantation.