A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate

M Shabani, S Aleyasin, S Kashef, S Zoghi… - Journal of Clinical …, 2019 - Springer
M Shabani, S Aleyasin, S Kashef, S Zoghi, C Deswarte, JL Casanova, J Bustamante
Journal of Clinical Immunology, 2019Springer
In this letter, we report a case of IFN-γR1 deficiency with a novel bi-allelic mutation in exon 6
of IFNGR1 gene and multiple bacterial, viral, and fungal infections, who had positive PCR for
Mycobacterium tuberculosis in bone marrow aspirate. To the best of our knowledge,
recessive complete IFN-γR1 deficiency is seldom manifested by disseminated
In this letter, we report a case of IFN-γR1 deficiency with a novel bi-allelic mutation in exon 6 of IFNGR1 gene and multiple bacterial, viral, and fungal infections, who had positive PCR for Mycobacterium tuberculosis in bone marrow aspirate. To the best of our knowledge, recessive complete IFN-γR1 deficiency is seldom manifested by disseminated
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