A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

Autosomal Dominant Hyper IgE Syndrome – Treatment Strategies and Clinical Outcomes

(2016) Aisling M. Flinn et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+T cells into distinct effector subsets

(2016) Cindy S. Ma et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Diagnostic value of exome and whole genome sequencing in craniosynostosis

(2016) Kerry A Miller et al.   JOURNAL OF MEDICAL GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

A Genetic-Pathophysiological Framework for Craniosynostosis

(2015) Stephen R.F. Twigg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations leading to constitutive active gp130/JAK1/STAT3 pathway

(2015) Camilla Pilati et al.   CYTOKINE & GROWTH FACTOR REVIEWS

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

(2015) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

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

Role of the IL-6 Gene in the Etiopathogenesis of Idiopathic Scoliosis

(2015) Svetla Nikolova et al.   Analytical Cellular Pathology

Novel Primary Immunodeficiency Candidate Genes Predicted by the Human Gene Connectome

(2015) Yuval Itan et al.   Frontiers in Immunology

A mouse model of HIES reveals pro- and anti-inflammatory functions of STAT3

(2014) S. M. Steward-Tharp et al.   BLOOD

Human IL-21 and IL-21R deficiencies

(2014) Daniel Kotlarz et al.   CURRENT OPINION IN PEDIATRICS

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

(2014) Yu Zhang et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

(2014) Atfa Sassi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology

(2014) Dawn Mikelonis et al.   Orphanet Journal of Rare Diseases

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Antimicrobial activity of fibrinogen and fibrinogen-derived peptides – a novel link between coagulation and innate immunity

(2013) Matthias Mörgelin et al.   THROMBOSIS AND HAEMOSTASIS

Mutations in the interleukin receptorIL11RAcause autosomal recessive Crouzon-like craniosynostosis

(2013) Katharina Keupp et al.   Molecular Genetics & Genomic Medicine

Molecular mechanisms of the immunological abnormalities in hyper-IgE syndrome

(2012) Yoshiyuki Minegishi et al.   Annals of the New York Academy of Sciences

JAK and STAT Signaling Molecules in Immunoregulation and Immune-Mediated Disease

(2012) John J. O'Shea et al.   IMMUNITY

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth

(2011) Pekka Nieminen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

In vivo effects of the anti-interleukin-6 receptor inhibitor tocilizumab on the B cell compartment

(2011) Petra Roll et al.   ARTHRITIS AND RHEUMATISM

Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation

(2011) Almut Meyer-Bahlburg et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity

(2010) C Jung et al.   CLINICAL GENETICS

Crystal Structure of the Entire Ectodomain of gp130

(2010) Yibin Xu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A new bioinformatics analysis tools framework at EMBL-EBI

(2010) M. Goujon et al.   NUCLEIC ACIDS RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

(2009) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Combined Immunodeficiency Associated withDOCK8Mutations

(2009) Qian Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Reduced memory B cells in patients with hyper IgE syndrome

(2008) C. Speckmann et al.   CLINICAL IMMUNOLOGY

Deficiency of Th17 cells in hyper IgE syndrome due to mutations inSTAT3

(2008) Cindy S. Ma et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutations inSTAT3andIL12RB1impair the development of human IL-17–producing T cells

(2008) Ludovic de Beaucoudrey et al.   JOURNAL OF EXPERIMENTAL MEDICINE

gp130 signaling in bone cell biology: Multiple roles revealed by analysis of genetically altered mice

(2008) Natalie A. Sims   MOLECULAR AND CELLULAR ENDOCRINOLOGY

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

(2008) Timothy J. Ley et al.   NATURE

Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

(2008) Joshua D. Milner et al.   NATURE