Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency

Rubén Martínez-Barricarte, Orli Megged, Polina Stepensky, Pierre Casimir, Marcela Moncada-Velez, Diana Averbuch, Marc Victor Assous, Omar Abuzaitoun, Xiao Fei Kong, Vincent Pedergnana, Caroline Deswarte, Mélanie Migaud, Stefan Rose-John, Yuval Itan, Bertrand Boisson, Aziz Belkadi, Francesca Conti, Laurent Abel, Guillaume Vogt, Stephanie Boisson-DupuisJean Laurent Casanova, Jacinta Bustamante

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)904-909
Number of pages6
JournalJournal of Clinical Immunology
Issue number8
StatePublished - Nov 5 2014
Externally publishedYes


  • Interferon and IFN-γR2 deficiency
  • MSMD
  • Mycobacterium simiae

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology


Dive into the research topics of 'Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency'. Together they form a unique fingerprint.

Cite this