IL-12R beta 1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

Tarih
2011
Yazar
AYDOGMUS, Cigdem
HASSANI, Amal
NOLAN, Daniel
NAJIB, Jilali
Hatipoglu, Nevin
TANIR, Gonul
AYTEKIN, Caner
Aksu, Guside
Kutukculer, Necil
Mansouri, Davood
BUSTAMANTE, Jacinta
FEINBERG, Jacqueline
SAMARINA, Arina
GRANT, Audrey V.
BOISSON-DUPUIS, Stephanie
PARVANEH, Nima
BOUSFIHA, Aziz
MAHDAVIANI, Alireza
MAMISHI, Setareh
ALCAIS, Alexandre
ABEL, Laurent
CASANOVA, Jean-Laurent
Keser, Melike
Camcioglu, Yildiz
Somer, Ayper
EL BAGHDADI, Jamila
JANNIERE, Lucile
EL HAFIDI, Naima
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Özet
Background and Objectives: In the last decade, autosomal recessive IL-12R beta 11 deficiency has been diagnosed in four children with severe tuberculosis from three unrelated families from Morocco, Spain, and Turkey, providing proof-of-principle that tuberculosis in otherwise healthy children may result from single-gene inborn errors of immunity. We aimed to estimate the fraction of children developing severe tuberculosis due to IL-12R beta 1 deficiency in areas endemic for tuberculosis and where parental consanguinity is common.
Bağlantı
http://hdl.handle.net/20.500.12627/58071
https://doi.org/10.1371/journal.pone.0018524
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