IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

(2011) Jacinta Bustamante et al.   NATURE IMMUNOLOGY

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

(2010) Alexandre Bolze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

(2010) Alexandre Alcaïs et al.   Annals of the New York Academy of Sciences

Treatment of Disseminated Mycobacterial Infection with High-Dose IFN-γin a Patient with IL-12Rβ1 Deficiency

(2010) Abdullah A. Alangari et al.   Clinical & Developmental Immunology

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Revisiting Human IL-12Rβ1 Deficiency

(2010) Ludovic de Beaucoudrey et al.   MEDICINE

Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2

(2010) Thorsten Thye et al.   NATURE GENETICS

Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis

(2009) Aurelie Cobat et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Consanguinity and reproductive health among Arabs

(2009) Ghazi O Tadmouri et al.   Reproductive Health

Complementation of a pathogenicIFNGR2misfolding mutation with modifiers of N-glycosylation

(2008) Guillaume Vogt et al.   JOURNAL OF EXPERIMENTAL MEDICINE