TY - JOUR
T1 - Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency
AU - Martínez-Barricarte, Rubén
AU - Megged, Orli
AU - Stepensky, Polina
AU - Casimir, Pierre
AU - Moncada-Velez, Marcela
AU - Averbuch, Diana
AU - Assous, Marc Victor
AU - Abuzaitoun, Omar
AU - Kong, Xiao Fei
AU - Pedergnana, Vincent
AU - Deswarte, Caroline
AU - Migaud, Mélanie
AU - Rose-John, Stefan
AU - Itan, Yuval
AU - Boisson, Bertrand
AU - Belkadi, Aziz
AU - Conti, Francesca
AU - Abel, Laurent
AU - Vogt, Guillaume
AU - Boisson-Dupuis, Stephanie
AU - Casanova, Jean Laurent
AU - Bustamante, Jacinta
N1 - Funding Information:
Acknowledgments We would like to thank the patients and their families for their collaboration, and both branches of the Laboratory of Human Genetics of Infectious Diseases for helpful discussions and support. We would like to thank the staff of the Pediatric Hemato-oncology and Bone Marrow Transplantation, Hadassah and Pediatric Department, Shaarei Zedek Hospital Jerusalem, where the patients were treated. We would also like to thank Yelena Nemirovskaya, Lahouari Amar, Eric Anderson, Martine Courat and Tiffany Nivare for administrative support. This research was funded in part by the National Institute of Allergy and Infectious Diseases grant number 5R37AI095983, the National Center for Research Resources and the National Center for Advancing Sciences (NCATS) of the National Institutes of Health grant number 8UL1TR000043, The Rockefeller University, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris Descartes University, the St. Giles Foundation and by the French National Research Agency (Agence Nationale de la Recherche ANR13-ISV3-0001-01) under the “Investissement d’avenir” program (grant n° ANR-10-IAHU-01). RMB was funded by the European Molecular Biology Organization (EMBO) and XFK was supported by Stony Wold-Herbert Fund, Choh-Hao Li Memorial Fund Scholar award and the Shanghai Educational Development Foundation.
Publisher Copyright:
© 2014, Springer Science+Business Media New York.
PY - 2014/11/5
Y1 - 2014/11/5
N2 - 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.
AB - 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.
KW - Interferon and IFN-γR2 deficiency
KW - MSMD
KW - Mycobacterium simiae
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U2 - 10.1007/s10875-014-0085-5
DO - 10.1007/s10875-014-0085-5
M3 - Article
C2 - 25135595
AN - SCOPUS:84912001917
SN - 0271-9142
VL - 34
SP - 904
EP - 909
JO - Journal of Clinical Immunology
JF - Journal of Clinical Immunology
IS - 8
ER -