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J Clin Immunol. 2018 May;38(4):460-463. doi: 10.1007/s10875-018-0509-8. Epub 2018 May 18.

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

Author information

1
DST/NRF Centre of Excellence for Biomedical Tuberculosis Research; South African Medical Research Council Centre for Tuberculosis Research; Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, PO Box 241, 8000, Francie van Zijl Drive, Tygerberg, Cape Town, 7505, South Africa.
2
St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, 10065, USA.
3
Grupo de Inmunodeficiencias Primarias, Universidad de Antioquia UdeA, Medellín, Colombia.
4
Lung Infection and Immunity Unit, Division of Pulmonology and UCT Lung Institute, Department of Medicine, University of Cape Town, Cape Town, South Africa.
5
Department of Medicine, University of Cape Town, Cape Town, South Africa.
6
Immunology Unit, Division of Medical Microbiology, National Health Laboratory Service and Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg Hospital, Cape Town, South Africa.
7
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Paris Descartes University, 75015, Paris, France.
8
Imagine Institute, Paris Descartes University, 75015, Paris, France.
9
Pediatric Hematology-Immunology Unit, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, 75015, Paris, France.
10
Howard Hughes Medical Institute, New York, NY, 10065, USA.
11
DST/NRF Centre of Excellence for Biomedical Tuberculosis Research; South African Medical Research Council Centre for Tuberculosis Research; Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, PO Box 241, 8000, Francie van Zijl Drive, Tygerberg, Cape Town, 7505, South Africa. gkin@sun.ac.za.

KEYWORDS:

IFN-γ immunity; IFNGR1; Mendelian susceptibility to mycobacterial disease; Mycobacterium other than tuberculosis; South Africa; Ttuberculosis

PMID:
29777412
DOI:
10.1007/s10875-018-0509-8

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