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.

Martinez-Barricarte R., Megged O., Stepensky P., Casimir P., Moncada-Velez M., Averbuch D., et al. (2014). Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency. JOURNAL OF CLINICAL IMMUNOLOGY, 34(8), 904-909 [10.1007/s10875-014-0085-5].

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

Conti F.;
2014

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.
2014
Martinez-Barricarte R., Megged O., Stepensky P., Casimir P., Moncada-Velez M., Averbuch D., et al. (2014). Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency. JOURNAL OF CLINICAL IMMUNOLOGY, 34(8), 904-909 [10.1007/s10875-014-0085-5].
Martinez-Barricarte R.; Megged O.; Stepensky P.; Casimir P.; Moncada-Velez M.; Averbuch D.; Assous M.V.; Abuzaitoun O.; Kong X.-F.; Pedergnana V.; Des...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/919818
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