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

Mahsima Shabani^{1

2}, Soheila Aleyasin³, Sara Kashef⁴, Samaneh Zoghi^{5

6

7}, Caroline Deswarte^{8

9}, Jean-Laurent Casanova^{8

9

10

11

12}, Jacinta Bustamante^{8

9

12

13}, Nima Rezaei^{14

15

16}

Affiliations

¹ Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Dr Qarib St, Keshavarz Blvd, Tehran, 14194, Iran.
² Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
³ Department of Immunology and Allergy, Shiraz University of Medical Sciences, Shiraz, Iran. alyasins@sums.ac.ir.
⁴ Department of Immunology and Allergy, Shiraz University of Medical Sciences, Shiraz, Iran.
⁵ Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
⁶ CeMM Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
⁷ Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Vienna, Austria.
⁸ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France.
⁹ Paris Descartes University, Paris, France.
¹⁰ St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
¹¹ Howard Hughes Medical Institute, New York, NY, USA.
¹² Pediatric Hematology-Immunology Unit, Assistance Publique-Hôpitaux de Paris AP-HP, Necker Hospital for Sick Children, Paris, France.
¹³ Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris AP-HP, Necker Hospital for Sick Children, Paris, France.
¹⁴ Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Dr Qarib St, Keshavarz Blvd, Tehran, 14194, Iran. rezaei_nima@tums.ac.ir.
¹⁵ Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. rezaei_nima@tums.ac.ir.
¹⁶ Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. rezaei_nima@tums.ac.ir.

PMID: 30719685
DOI: 10.1007/s10875-019-00595-7

Case Reports

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

Mahsima Shabani et al. J Clin Immunol. 2019 Feb.

. 2019 Feb;39(2):127-130.

doi: 10.1007/s10875-019-00595-7. Epub 2019 Feb 5.

Authors

Affiliations

¹ Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Dr Qarib St, Keshavarz Blvd, Tehran, 14194, Iran.
² Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
³ Department of Immunology and Allergy, Shiraz University of Medical Sciences, Shiraz, Iran. alyasins@sums.ac.ir.
⁴ Department of Immunology and Allergy, Shiraz University of Medical Sciences, Shiraz, Iran.
⁵ Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
⁶ CeMM Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
⁷ Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Vienna, Austria.
⁸ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France.
⁹ Paris Descartes University, Paris, France.
¹⁰ St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
¹¹ Howard Hughes Medical Institute, New York, NY, USA.
¹² Pediatric Hematology-Immunology Unit, Assistance Publique-Hôpitaux de Paris AP-HP, Necker Hospital for Sick Children, Paris, France.
¹³ Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris AP-HP, Necker Hospital for Sick Children, Paris, France.
¹⁴ Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Dr Qarib St, Keshavarz Blvd, Tehran, 14194, Iran. rezaei_nima@tums.ac.ir.
¹⁵ Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. rezaei_nima@tums.ac.ir.
¹⁶ Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. rezaei_nima@tums.ac.ir.

PMID: 30719685
DOI: 10.1007/s10875-019-00595-7

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References

1. Front Pediatr. 2017 May 03;5:75 - PubMed
1. Semin Immunol. 2014 Dec;26(6):454-70 - PubMed
1. Pediatrics. 2001 Apr;107(4):E48 - PubMed
1. J Allergy Clin Immunol. 2015 Jun;135(6):1638-41 - PubMed
1. Lancet. 2004 Dec 11-17;364(9451):2113-21 - PubMed

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

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

Authors

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References

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LinkOut - more resources

Full Text Sources

Research Materials