New and recurrent gain-of-functionSTAT1mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe

The Spread of the J Project

(2013) Zsuzsa Horváth et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

(2012) Anne Puel et al.   Current Opinion in Allergy and Clinical Immunology

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

(2012) Stephanie Boisson-Dupuis et al.   CURRENT OPINION IN IMMUNOLOGY

Unravelling fungal immunity through primary immune deficiencies

(2012) Desa Lilic   CURRENT OPINION IN MICROBIOLOGY

Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects

(2012) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species

(2012) László Maródi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Biology of Intracranial Aneurysms: Role of Inflammation

(2012) Nohra Chalouhi et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Autosomal-Dominant Chronic Mucocutaneous Candidiasis with STAT1-Mutation can be Complicated with Chronic Active Hepatitis and Hypothyroidism

(2012) Tomohiro Hori et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Chronic Mucocutaneous Candidiasis Caused by a Gain-of-Function Mutation in the STAT1 DNA-Binding Domain

(2012) S. Takezaki et al.   JOURNAL OF IMMUNOLOGY

Herpes in STAT1 gain-of-function mutation

(2012) Beáta Tóth et al.   LANCET

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

(2012) Gillian I Rice et al.   NATURE GENETICS

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

(2012) D. Bogunovic et al.   SCIENCE

The creation and progress of the J Project in Eastern and Central Europe

(2011) László Maródi et al.   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

Local and Systemic Alterations in Signal Transducers and Activators of Transcription (STAT) Associated with Human Abdominal Aortic Aneurysms

(2011) Mingfang Liao et al.   JOURNAL OF SURGICAL RESEARCH

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

(2011) Tracy A Briggs et al.   NATURE GENETICS

STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

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

STAT1 Hyperphosphorylation and Defective IL12R/IL23R Signaling Underlie Defective Immunity in Autosomal Dominant Chronic Mucocutaneous Candidiasis

(2011) Sanne P. Smeekens et al.   PLoS One

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

(2011) A. Puel et al.   SCIENCE

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

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

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?

(2010) Anne Puel et al.   CURRENT OPINION IN IMMUNOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

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

Anticytokine autoantibodies in infectious diseases: pathogenesis and mechanisms

(2010) Sarah K Browne et al.   LANCET INFECTIOUS DISEASES

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Primary immunodeficiency diseases: the J Project

(2009) László Maródi et al.   LANCET