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

Mahsima Shabani; Soheila Aleyasin; Sara Kashef; Samaneh Zoghi; Caroline Deswarte; Jean-Laurent Casanova; Jacinta Bustamante; Nima Rezaei

doi:10.1007/s10875-019-00595-7

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

J Clin Immunol. 2019 Feb;39(2):127-130. doi: 10.1007/s10875-019-00595-7. Epub 2019 Feb 5.

Authors

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. [email protected].
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. [email protected].
¹⁵ Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. [email protected].
¹⁶ Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. [email protected].

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

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Bone Marrow
Child, Preschool
Fatal Outcome
Genetic Predisposition to Disease
Humans
Interferon gamma Receptor
Male
Mutation
Mycobacterium tuberculosis / genetics*
Primary Immunodeficiency Diseases / genetics*
Receptors, Interferon / deficiency
Receptors, Interferon / genetics*

Substances

Receptors, Interferon