Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency

(2020) Fahad Alsohime et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

(2019) Nicholas Hernandez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

(2019) Scott B. Drutman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Pyrin Inflammasome in Health and Disease

(2019) Oskar Schnappauf et al.   Frontiers in Immunology

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

(2019) Christopher J. A. Duncan et al.   Science Immunology

Homozygous calcium-sensing receptor polymorphism R544Q presents as hypocalcemic hypoparathyroidism

(2018) Branca M Cavaco et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies

(2018) Gina A. Montealegre Sanchez et al.   JOURNAL OF CLINICAL INVESTIGATION

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

(2018) Nicholas Hernandez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The Goldilocks Zone of Type I IFNs: Lessons from Human Genetics

(2018) Justin Taft et al.   JOURNAL OF IMMUNOLOGY

JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome

(2017) Kate L. Del Bel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A novel kindred with inherited STAT2 deficiency and severe viral illness

(2017) Leen Moens et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

STAT2 is an essential adaptor in USP18-mediated suppression of type I interferon signaling

(2017) Kei-ichiro Arimoto et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

STAT2 is an essential adaptor in USP18-mediated suppression of type I interferon signaling

(2017) Kei-ichiro Arimoto et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

(2016) Marije E.C. Meuwissen et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

(2016) Mathieu P. Rodero et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

(2015) Alexandra Y. Kreins et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Human IFNAR2 deficiency: Lessons for antiviral immunity

(2015) Christopher J. A. Duncan et al.   Science Translational Medicine

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

(2014) Xianqin Zhang et al.   NATURE

STAT2 deficiency and susceptibility to viral illness in humans

(2013) S. Hambleton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

USP18 establishes the transcriptional and anti-proliferative interferon α/β differential

(2012) Véronique Francois-Newton et al.   BIOCHEMICAL JOURNAL

The JAK-STAT Pathway at Twenty

(2012) George R. Stark et al.   IMMUNITY

Type I interferonopathies: a novel set of inborn errors of immunity

(2011) Yanick J. Crow   Annals of the New York Academy of Sciences

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

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

USP18-Based Negative Feedback Control Is Induced by Type I and Type III Interferons and Specifically Inactivates Interferon α Response

(2011) Véronique François-Newton et al.   PLoS One

Toll-like Receptor and RIG-1-like Receptor Signaling

(2009) Taro Kawai et al.   Annals of the New York Academy of Sciences