Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.

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.

Citation

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-Dupuis, Jean-Laurent Casanova, Jacinta Bustamante. Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency. Journal of clinical immunology. 2014 Nov;34(8):904-9

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PMID: 25135595

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