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Article Dans Une Revue Journal of Clinical Immunology Année : 2014

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

Orli Megged
  • Fonction : Auteur
Marc Victor Assous
  • Fonction : Auteur
Omar Abuzaitoun
  • Fonction : Auteur

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.

Dates et versions

hal-03691912 , version 1 (09-06-2022)

Identifiants

Citer

Rubén Martínez-Barricarte, Orli Megged, Polina Stepensky, Pierre Casimir, Marcela Moncada-Velez, et al.. Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency. Journal of Clinical Immunology, 2014, 34 (8), pp.904-909. ⟨10.1007/s10875-014-0085-5⟩. ⟨hal-03691912⟩

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