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

BOISSON-DUPUIS, Stephanie; EL BAGHDADI, Jamila; PARVANEH, Nima; BOUSFIHA, Aziz; BUSTAMANTE, Jacinta; FEINBERG, Jacqueline; SAMARINA, Arina; GRANT, Audrey; JANNIERE, Lucile; EL HAFIDI, Naima; HASSANI, Amal; NOLAN, Daniel; NAJIB, Jilali; Camcioglu, Yildiz; Hatipoglu, Nevin; AYDOGMUS, Cigdem; TANIR, Gonul; AYTEKIN, Caner; Keser, Melike; Somer, AYPER; Aksu, Guside; Kutukculer, Necil; Mansouri, Davood; MAHDAVIANI, Alireza; MAMISHI, Setareh; ALCAIS, Alexandre; ABEL, Laurent; CASANOVA, Jean-Laurent

doi:10.1371/journal.pone.0018524

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

BOISSON-DUPUIS S., EL BAGHDADI J., PARVANEH N., BOUSFIHA A., BUSTAMANTE J., FEINBERG J., ...Daha Fazla

PLOS ONE, cilt.6, sa.4, 2011 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 6 Sayı: 4
Basım Tarihi: 2011
Doi Numarası: 10.1371/journal.pone.0018524
Dergi Adı: PLOS ONE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
İstanbul Üniversitesi Adresli: Evet

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.