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

• Published in: Revista alergia Mexico (Tecamachalco, Pueblo, Mexico : 1993) Vol. 64; no. 4; pp. 499 - 504
• Main Authors: Martínez-Morales, María Cecilia, Deswarte, Carolina, Castañeda-Casimiro, Jessica, Bustamante, Jacinta, Blancas-Galicia, Lizbeth, Scheffler-Mendoza, Selma
• Format: Journal Article
• Language: English; Spanish
• Published: Mexico Colegio Mexicano de Inmunología Clínica y Alergia, A.C 01.10.2017
• Subjects: BCG; Deficiencia de receptor 1 de IFN-γ; Female; Humans; Infant; Inmunodeficiencia primaria; Interferon gamma Receptor; Mexico; Micobacteria; Pedigree; Receptors, Interferon - deficiency; Receptors, Interferon - genetics; Trasplante de médula ósea; Tuberculosis - immunology; Mexico; Bone marrow transplantation; Mycobacteria; BCG; IFN-γR1 deficiency; Primary immunodeficiency
• ISSN: 0002-5151; 2448-9190
• DOI: 10.29262/ram.v64i4.329

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. 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). 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.