Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency
Rubén Martínez-Barricarte
(1)
,
Orli Megged
,
Polina Stepensky
(2)
,
Pierre Casimir
(1)
,
Marcela Moncada-Velez
(1, 3)
,
Diana Averbuch
(2)
,
Marc Victor Assous
,
Omar Abuzaitoun
,
Xiao-Fei Kong
(1)
,
Vincent Pedergnana
(4)
,
Caroline Deswarte
(4)
,
Mélanie Migaud
(4)
,
Stefan Rose-John
(5)
,
Yuval Itan
(1)
,
Bertrand Boisson
(1)
,
Aziz Belkadi
(4)
,
Francesca Conti
(4)
,
Laurent Abel
(1, 4)
,
Guillaume Vogt
(4)
,
Stephanie Boisson-Dupuis
(1, 4)
,
Jean-Laurent Casanova
(1, 4, 6)
,
Jacinta Bustamante
(4, 7)
1
St. Giles Laboratory of Human Genetics of Infectious Diseases
2 Hadassah Hebrew University Medical Center [Jerusalem]
3 Universidad de Antioquia = University of Antioquia [Medellín, Colombia]
4 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
5 CAU - Christian-Albrechts-Universität zu Kiel = Christian-Albrechts University of Kiel = Université Christian-Albrechts de Kiel
6 HHMI - Howard Hughes Medical Institute
7 Hôpital Necker - Enfants Malades [AP-HP]
2 Hadassah Hebrew University Medical Center [Jerusalem]
3 Universidad de Antioquia = University of Antioquia [Medellín, Colombia]
4 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
5 CAU - Christian-Albrechts-Universität zu Kiel = Christian-Albrechts University of Kiel = Université Christian-Albrechts de Kiel
6 HHMI - Howard Hughes Medical Institute
7 Hôpital Necker - Enfants Malades [AP-HP]
Orli Megged
- Fonction : Auteur
Marcela Moncada-Velez
- Fonction : Auteur
- PersonId : 802710
- ORCID : 0000-0002-3073-5345
Marc Victor Assous
- Fonction : Auteur
Omar Abuzaitoun
- Fonction : Auteur
Vincent Pedergnana
- Fonction : Auteur
- PersonId : 174866
- IdHAL : vincent-pedergnana
- ORCID : 0000-0002-7852-5339
- IdRef : 175475547
Caroline Deswarte
- Fonction : Auteur
- PersonId : 772685
- ORCID : 0000-0002-8775-3368
Mélanie Migaud
- Fonction : Auteur
- PersonId : 769678
- ORCID : 0000-0003-3062-1214
Bertrand Boisson
- Fonction : Auteur
- PersonId : 757762
- ORCID : 0000-0001-5240-3555
- IdRef : 08188317X
Laurent Abel
- Fonction : Auteur
- PersonId : 756191
- ORCID : 0000-0001-7016-6493
- IdRef : 07779432X
Jean-Laurent Casanova
- Fonction : Auteur
- PersonId : 756193
- ORCID : 0000-0002-7782-4169
- IdRef : 073388726
Jacinta Bustamante
- Fonction : Auteur
- PersonId : 757899
- ORCID : 0000-0002-3439-2482
- IdRef : 124593461
Résumé
Interferon-γ receptor 2 (IFN-γR2) deficiency is a rare primary immunodeficiency characterized by predisposition to infections with weakly virulent mycobacteria, such as environmental mycobacteria and BCG vaccines. We describe here two children with IFN-γR2 deficiency, from unrelated, consanguineous kindreds of Arab and Israeli descent. The first patient was a boy who died at the age of 4.5 years, from recurrent, disseminated disease caused by Mycobacterium simiae. His IFN-γR2 defect was autosomal recessive and complete. The second patient was a girl with multiple disseminated mycobacterial infections, including infection with M. simiae. She died at the age of 5 years, a short time after the transplantation of umbilical cord blood cells from an unrelated donor. Her IFN-γR2 defect was autosomal recessive and partial. Autosomal recessive IFN-γR2 deficiency is life-threatening, even in its partial form, and genetic diagnosis and familial counseling are therefore particularly important for this condition. These two cases are the first of IFN-γR2 deficiency associated with M. simiae infection to be described.