TY - JOUR
T1 - Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency
AU - Martínez-Barricarte, Rubén
AU - Megged, Orli
AU - Stepensky, Polina
AU - Casimir, Pierre
AU - Moncada-Velez, Marcela
AU - Averbuch, Diana
AU - Assous, Marc Victor
AU - Abuzaitoun, Omar
AU - Kong, Xiao Fei
AU - Pedergnana, Vincent
AU - Deswarte, Caroline
AU - Migaud, Mélanie
AU - Rose-John, Stefan
AU - Itan, Yuval
AU - Boisson, Bertrand
AU - Belkadi, Aziz
AU - Conti, Francesca
AU - Abel, Laurent
AU - Vogt, Guillaume
AU - Boisson-Dupuis, Stephanie
AU - Casanova, Jean Laurent
AU - Bustamante, Jacinta
N1 - Publisher Copyright:
© 2014, Springer Science+Business Media New York.
PY - 2014/11/5
Y1 - 2014/11/5
N2 - 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.
AB - 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.
KW - Interferon and IFN-γR2 deficiency
KW - MSMD
KW - Mycobacterium simiae
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U2 - 10.1007/s10875-014-0085-5
DO - 10.1007/s10875-014-0085-5
M3 - Article
C2 - 25135595
AN - SCOPUS:84912001917
SN - 0271-9142
VL - 34
SP - 904
EP - 909
JO - Journal of Clinical Immunology
JF - Journal of Clinical Immunology
IS - 8
ER -