| Autor: |
Martínez-Barricarte, Rubén, Megged, Orli, Stepensky, Polina, Casimir, Pierre, Moncada-Velez, Marcela, Averbuch, Diana, Assous, Marc, 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 |
| Předmět: |
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| Zdroj: |
Journal of Clinical Immunology; Nov2014, Vol. 34 Issue 8, p904-909, 6p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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