Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease

Severe impairment of IFN-  and IFN-  responses in cells of a patient with a novel STAT1 splicing mutation

(2011) D. Vairo et al.   BLOOD

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

(2011) Frank L. van de Veerdonk et al.   NEW ENGLAND JOURNAL OF MEDICINE

Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

(2011) A. Puel et al.   SCIENCE

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

(2010) X.-F. Kong et al.   BLOOD

Novel STAT1 Alleles in a Patient with Impaired Resistance to Mycobacteria

(2010) Ines Ackerl Kristensen et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Revisiting Human IL-12Rβ1 Deficiency

(2010) Ludovic de Beaucoudrey et al.   MEDICINE

Hoxb4 transduction down-regulates Geminin protein, providing hematopoietic stem and progenitor cells with proliferation potential

(2010) Y. Ohno et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulation of immune responses by interleukin-27

(2009) Hiroki Yoshida et al.   IMMUNOLOGICAL REVIEWS

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-α/β, IFN-γ, and IFN-λ in host defense

(2009) Shen-Ying Zhang et al.   IMMUNOLOGICAL REVIEWS

A partial form of recessive STAT1 deficiency in humans

(2009) Ariane Chapgier et al.   JOURNAL OF CLINICAL INVESTIGATION

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

(2008) Ellen D. Renner et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Complementation of a pathogenicIFNGR2misfolding mutation with modifiers of N-glycosylation

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