Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

(2017) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

(2017) Tobias Schwerd et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Hematopoietic stem cell transplantation from unrelated donors in children with DOCK8 deficiency

(2017) Dilara Fatma K. Uygun et al.   PEDIATRIC TRANSPLANTATION

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

(2017) Beryl B. Cummings et al.   Science Translational Medicine

Genetic diagnosis of Mendelian disorders via RNA sequencing

(2017) Laura S. Kremer et al.   Nature Communications

Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE

(2016) Anne-Kathrin Kienzler et al.   CLINICAL IMMUNOLOGY

IL-6 promotes the differentiation of a subset of naive CD8 + T cells into IL-21–producing B helper CD8 + T cells

(2016) Rui Yang et al.   JOURNAL OF EXPERIMENTAL MEDICINE

An optimized multiplex flow cytometry protocol for the analysis of intracellular signaling in peripheral blood mononuclear cells

(2016) Richard Davies et al.   JOURNAL OF IMMUNOLOGICAL METHODS

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

(2016) Monkol Lek et al.   NATURE

Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children

(2016) Beate Hagl et al.   PEDIATRIC ALLERGY AND IMMUNOLOGY

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing

(2016) Vera Gallo et al.   Frontiers in Immunology

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

DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

(2015) Susanne E. Aydin et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

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Atopic dermatitis, STAT3- and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern

(2014) A. C. Boos et al.   ALLERGY

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype

(2014) Huie Jing et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency

(2014) Sung-Yun Pai et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The splicing activator DAZAP1 integrates splicing control into MEK/Erk-regulated cell proliferation and migration

(2014) Rajarshi Choudhury et al.   Nature Communications

Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies

(2013) Isaac J. Nijman et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Hyper-IgE syndrome update

(2012) Kathryn J. Sowerwine et al.   Annals of the New York Academy of Sciences

Expansion of somatically reverted memory CD8+T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus

(2012) Umaimainthan Palendira et al.   JOURNAL OF EXPERIMENTAL MEDICINE

SpliceAid 2: A database of human splicing factors expression data and RNA target motifs

(2011) Francesco Piva et al.   HUMAN MUTATION

DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice

(2011) Katrina L. Randall et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Loss of CD4 + T Cell IL-6R Expression during Inflammation Underlines a Role for IL-6 Trans Signaling in the Local Maintenance of Th17 Cells

(2010) Gareth W. Jones et al.   JOURNAL OF IMMUNOLOGY

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

A Rac GTPase-Activating Protein, MgcRacGAP, Is a Nuclear Localizing Signal-Containing Nuclear Chaperone in the Activation of STAT Transcription Factors

(2009) T. Kawashima et al.   MOLECULAR AND CELLULAR BIOLOGY

Combined Immunodeficiency Associated withDOCK8Mutations

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

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Somatic mosaicism in primary immune deficiencies

(2008) Taizo Wada et al.   Current Opinion in Allergy and Clinical Immunology

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

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

(2008) Joshua D. Milner et al.   NATURE