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

Brigitte Glanzmann¹, Marlo Möller¹, Marcela Moncada-Velez^{2

3}, Jonny Peter^{4

5}, Michael Urban¹, Paul D van Helden¹, Eileen G Hoal¹, Nikola de Villiers¹, Richard H Glashoff⁶, Rina Nortje⁶, Jacinta Bustamante^{2

7

8}, Laurent Abel^{2

7

8}, Jean-Laurent Casanova^{2

7

8

9

10}, Stephanie Boisson-Dupuis^{2

7

8}, Monika Esser⁶, Craig J Kinnear¹¹

Affiliations

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.

PMID: 29777412
PMCID: PMC6478027
DOI: 10.1007/s10875-018-0509-8

Case Reports

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

Brigitte Glanzmann et al. J Clin Immunol. 2018 May.

. 2018 May;38(4):460-463.

doi: 10.1007/s10875-018-0509-8. Epub 2018 May 18.

Authors

Affiliations

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.

PMID: 29777412
PMCID: PMC6478027
DOI: 10.1007/s10875-018-0509-8

No abstract available

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

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Conflict of interest statement

Conflict of Interest

The authors declare no conflict of interest.

Figures

**Figure 1.**
**(A) Chest X-ray of the patient**. White arrow indicates lytic lesions in the humerus. **(B) Bone scan of the patient**. Multiple small radio dense lesions demonstrated in the bones (indicated by the black arrows).

See this image and copyright information in PMC

References

1. Bustamante J, Picard C, Boisson-Dupuis S, Abel L, Casanova J-L. Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases. Ann N Y Acad Sci. 2011;1246:92–101. - PMC - PubMed
1. Bustamante J, Boisson-Dupuis S, Abel L, Casanova J-L. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Semin Immunol. 2014;26:454–70. - PMC - PubMed
1. Boisson-Dupuis S, Bustamante J, El-Baghdadi J, Camcioglu Y, Parvaneh N, El Azbaoui S, et al. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunol Rev. 2015;264:103–20. - PMC - PubMed
1. Casanova JL. Mendelian susceptibility to mycobacterial infection in man. SwissMedWkly. 2001;131:445–54. - PubMed
1. Dorman SE, Picard C, Lammas D, Heyne K, van Dissel JT, Baretto R, et al. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet. 2004;364:2113–21. - PubMed

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

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

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Conflict of interest statement

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