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Rev Alerg Mex. 2017 Oct-Dec;64(4):499-504.

[Disseminated infection by M. tuberculosis complex in patient with IFN-γ receptor 1 complete deficiency].

[Article in Spanish; Abstract available in Spanish from the publisher]

Author information

1
Secretaría de Salud, Instituto Nacional de Pediatría, Servicio de Inmunología. Ciudad de México, México. drascheffler@hotmail.com.

Abstract

in English, Spanish

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.

CLINICAL 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.

KEYWORDS:

BCG; Bone marrow transplantation; IFN-γR1 deficiency; Mycobacteria; Primary immunodeficiency

PMID:
29249112
DOI:
10.29262/ram.v64i4.329
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