Mycobacterial Disease and Impaired IFN-  Immunity in Humans with Inherited ISG15 Deficiency

Lethal Tuberculosis in a Previously Healthy Adult with IL-12 Receptor Deficiency

(2011) Payam Tabarsi et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease

(2011) A. V. Grant et al.   JOURNAL OF MEDICAL GENETICS

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

(2011) Jacinta Bustamante et al.   NATURE IMMUNOLOGY

IRF8Mutations and Human Dendritic-Cell Immunodeficiency

(2011) Sophie Hambleton et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2011) Stéphanie Boisson-Dupuis et al.   PLoS One

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

ISG15 and immune diseases

(2010) Young Joo Jeon et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Emerging Role of ISG15 in Antiviral Immunity

(2010) Brian Skaug et al.   CELL

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

Interferon-Stimulated Gene 15 and the Protein ISGylation System

(2010) Dongxian Zhang et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

Revisiting Human IL-12Rβ1 Deficiency

(2010) Ludovic de Beaucoudrey et al.   MEDICINE

The ISG15 Conjugation System Broadly Targets Newly Synthesized Proteins: Implications for the Antiviral Function of ISG15

(2010) Larissa A. Durfee et al.   MOLECULAR CELL

Human genetics of infectious diseases: between proof of principle and paradigm

(2009) Alexandre Alcaïs et al.   JOURNAL OF CLINICAL INVESTIGATION

Antiviral Activity of Innate Immune Protein ISG15

(2009) Ronald N. Harty et al.   Journal of Innate Immunity