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

ABSTRACT: 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.

• Autores: Moncada Vélez, Marcela; Martínez Barricarte, Rubén; Megged, Orli; Stepensky, Polina; Casimir, Pierre; Averbuch, Diana; Assous, Marc Victor; Abuzaitoun, Omar; Kong, Xiao Fei; Pedergnana, Vincent; Deswarte, Caroline; Migaud, Mélanie; Rose John, Stefan; Itan, Yuval; Boisson, Bertrand; Belkadi, Aziz; Conti, Francesca; Abel, Laurent; Vogt, Guillaume; Boisson-Dupuis, Stephanie; Casanova, Jean-Laurent; Bustamante, Jacinta
• Tipo de recurso: Investigation report
• Fecha de publicación: 2014
• Institución: Universidad de Antioquia
• Repositorio: Repositorio UdeA
• Idioma: eng
• OAI Identifier: oai:bibliotecadigital.udea.edu.co:10495/43119
• Acceso en línea: https://hdl.handle.net/10495/43119
• Palabra clave: Fatal Outcome; Resultado Fatal; Genetic Predisposition to Disease; Predisposición Genética a la Enfermedad; Immunologic Deficiency Syndromes; Síndromes de Inmunodeficiencia; Mycobacterium Infections; Infecciones por Mycobacterium; Receptors, Interferon; Receptores de Interferón; https://id.nlm.nih.gov/mesh/D017809; https://id.nlm.nih.gov/mesh/D020022; https://id.nlm.nih.gov/mesh/D007153; https://id.nlm.nih.gov/mesh/D009164; https://id.nlm.nih.gov/mesh/D017471
• Rights: openAccess
• License: https://creativecommons.org/licenses/by/4.0/