Erschienen in:
05.02.2019 | Letter to Editor
A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate
verfasst von:
Mahsima Shabani, Soheila Aleyasin, Sara Kashef, Samaneh Zoghi, Caroline Deswarte, Jean-Laurent Casanova, Jacinta Bustamante, Nima Rezaei
Erschienen in:
Journal of Clinical Immunology
|
Ausgabe 2/2019
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Excerpt
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 M. tuberculosis infection. …