Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency

Human inborn errors of immunity to herpes viruses

(2020) Emmanuelle Jouanguy et al.   CURRENT OPINION IN IMMUNOLOGY

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

(2020) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

OMIP ‐ 063 : 28‐Color Flow Cytometry Panel for Broad Human Immunophenotyping

(2020) Kathryn Payne et al.   CYTOMETRY PART A

Protein functionality as a potential bottleneck for somatic revertant variants

(2020) Fabian M.P. Kaiser et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Long-term robustness of a T-cell system emerging from somatic rescue of a genetic block in T-cell development

(2020) Patrick Kury et al.   EBioMedicine

Standardized next-generation sequencing of immunoglobulin and T-cell receptor gene recombinations for MRD marker identification in acute lymphoblastic leukaemia; a EuroClonality-NGS validation study

(2019) Monika Brüggemann et al.   LEUKEMIA

Somatic genetic rescue in Mendelian haematopoietic diseases

(2019) Patrick Revy et al.   NATURE REVIEWS GENETICS

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

(2018) Jérémie Rosain et al.   JOURNAL OF CLINICAL IMMUNOLOGY

T cell defects in patients with ARPC1B germline mutations account for their combined immunodeficiency

(2018) Immacolata Brigida et al.   BLOOD

Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1

(2018) Akihiro Hoshino et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency

(2018) Susanne E. Aydin et al.   Journal of Allergy and Clinical Immunology-In Practice

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

(2017) Virginie Grandin et al.   HUMAN MUTATION

Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247

(2017) Ana V. Marin et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Dedicator of cytokinesis 8–deficient CD4 + T cells are biased to a T H 2 effector fate at the expense of T H 1 and T H 17 cells

(2017) Stuart G. Tangye et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

(2017) Federica Buonocore et al.   JOURNAL OF CLINICAL INVESTIGATION

DOCK8 Drives Src-Dependent NK Cell Effector Function

(2017) Conor J. Kearney et al.   JOURNAL OF IMMUNOLOGY

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype

(2017) Rajalakshmi S. Asur et al.   Molecular Genetics & Genomic Medicine

Heterogeneity of Human CD4+T Cells Against Microbes

(2016) Federica Sallusto   Annual Review of Immunology

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

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

A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton

(2016) Erin Janssen et al.   JOURNAL OF CLINICAL INVESTIGATION

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome and are associated with loss of chromosome 7

(2016) Satoshi Narumi et al.   NATURE GENETICS

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

(2015) S. Fuchs et al.   BLOOD

Chromothriptic Cure of WHIM Syndrome

(2015) David H. McDermott et al.   CELL

In vivo reversion of an inherited mutation in a Chinese patient with Wiskott–Aldrich syndrome

(2015) Jing-Wen Xie et al.   HUMAN IMMUNOLOGY

AluY-mediated germline deletion, duplication and somatic stem cell reversion inUBE2Tdefines a new subtype of Fanconi anemia

(2015) Elizabeth L. Virts et al.   HUMAN MOLECULAR GENETICS

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

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

VDJtools: Unifying Post-analysis of T Cell Receptor Repertoires

(2015) Mikhail Shugay et al.   PLoS Computational Biology

A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8+ and natural killer cell cytotoxicity

(2014) Raquel Ruiz-García et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype

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

Combined Immunodeficiency Evolving into Predominant CD4+ Lymphopenia Caused by Somatic Chimerism in JAK3

(2014) Sol A. Ban et al.   JOURNAL OF CLINICAL IMMUNOLOGY

RAG1 Reversion Mosaicism in a Patient with Omenn Syndrome

(2014) Elena Crestani et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Diversity and clonal selection in the human T-cell repertoire

(2014) Q. Qi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DOCK8 is critical for the survival and function of NKT cells

(2013) G. Crawford et al.   BLOOD

Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency

(2013) Melissa C. Mizesko et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

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

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

Somatic Mosaicism Caused by Monoallelic Reversion of a Mutation in T Cells of a Patient with ADA-SCID and the Effects of Enzyme Replacement Therapy on the Revertant Phenotype

(2011) M. Moncada-Vélez et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

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

(2010) Heng Li et al.   BIOINFORMATICS

Overlap and Effective Size of the Human CD8+ T Cell Receptor Repertoire

(2010) H. S. Robins et al.   Science Translational Medicine

Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency

(2008) C. Speckmann et al.   BLOOD