A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate
To the Editor
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.
The patient was a 2-year-old boy from consanguineous parents from Iran. He had a normal development and was healthy until 2 months prior to his first admission. At first, he was admitted due to fever, diarrhea, and abdominal distention. Despite starting antibiotic therapy with Ceftriaxone, he had developed decreased appetite and malaise. Ultrasonography (US) revealed intussusception which was reduced via enema. Additional findings in US were multiple mildly enlarged para-aortic and mesenteric lymph nodes. The patient’s symptoms gradually subsided following add-on treatment with...
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Conflict of Interest
The authors declare that they have no conflict of interest.
- 1.Staines-Boone AT, Deswarte C, Venegas Montoya E, Sánchez-Sánchez LM, García Campos JA, Muñiz-Ronquillo T, et al. Multifocal recurrent osteomyelitis and hemophagocytic lymphohistiocytosis in a boy with partial dominant IFN-gammaR1 deficiency: case report and review of the literature. Front Pediatr. 2017;5:75.CrossRefPubMedGoogle Scholar
- 2.Rezaei N, Aghamohammadi A, Notarangelo L.D. Primary immunodeficiency diseases; definition, diagnosis, and management. Springer-Verlag Berlin Heidelberg; 2017.Google Scholar
- 5.Dorman SE, Picard C, Lammas D, et al. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet (London, England) 2004; 364(9451): 2113–2121.Google Scholar