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J Clin Immunol. 2019 Feb 5. doi: 10.1007/s10875-019-00595-7. [Epub ahead of print]

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

Shabani M1,2, Aleyasin S3, Kashef S4, Zoghi S5,6,7, Deswarte C8,9, Casanova JL8,9,10,11,12, Bustamante J8,9,12,13, Rezaei N14,15,16.

Author information

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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