相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity
Charlotte Boussard et al.
BLOOD (2023)
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
Jennifer W. Leiding et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2023)
Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation
Mansi Narula et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2023)
Regulatory T cells in peripheral tissue tolerance and diseases
Nardos Cheru et al.
FRONTIERS IN IMMUNOLOGY (2023)
Homology-Directed-Repair-Based Genome Editing in HSPCs for the Treatment of Inborn Errors of Immunity and Blood Disorders
Daniel Allen et al.
PHARMACEUTICS (2023)
Real-world experience with low-dose IL-2 for children and young adults with refractory chronic graft-versus-host disease
Holly Wobma et al.
BLOOD ADVANCES (2023)
Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome
A. Magnani et al.
NATURE MEDICINE (2022)
Genetic diagnosis of immune dysregulation can lead to targeted therapy for interstitial lung disease: A case series and single center approach
Holly Wobma et al.
PEDIATRIC PULMONOLOGY (2022)
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation
Akihiro Hoshino et al.
SCIENCE IMMUNOLOGY (2022)
The ABACHAI clinical trial protocol: Safety and efficacy of abatacept (s.c.) in patients with CTLA-4 insufficiency or LRBA deficiency: A non controlled phase 2 clinical trial
Mate Krausz et al.
CONTEMPORARY CLINICAL TRIALS COMMUNICATIONS (2022)
DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity
Benjamin Fournier et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2021)
Inborn errors of IKAROS and AIOLOS
Motoi Yamashita et al.
CURRENT OPINION IN IMMUNOLOGY (2021)
Phase II Trial of Costimulation Blockade With Abatacept for Prevention of Acute GVHD
Benjamin Watkins et al.
JOURNAL OF CLINICAL ONCOLOGY (2021)
Bach2 Deficiency Promotes Intestinal Epithelial Regeneration by Accelerating DNA Repair in Intestinal Stem Cells
Yuanchuang Li et al.
STEM CELL REPORTS (2021)
Enhanced homology-directed repair for highly efficient gene editing in hematopoietic stem/progenitor cells
Suk See De Ravin et al.
BLOOD (2021)
Gene Therapies for Primary Immune Deficiencies
Lisa A. Kohn et al.
FRONTIERS IN IMMUNOLOGY (2021)
Inborn errors of immunity with atopic phenotypes: A practical guide for allergists
Riccardo Castagnoli et al.
WORLD ALLERGY ORGANIZATION JOURNAL (2021)
Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review
M. Jamee et al.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2021)
Regulation of CTLA-4 recycling by LRBA and Rab11
Daniel Janman et al.
IMMUNOLOGY (2021)
Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes
Laura Gamez-Diaz et al.
BIOMEDICAL JOURNAL (2021)
Polymorphism in BACH2 gene is a marker of polyglandular autoimmunity
Marta Fichna et al.
ENDOCRINE (2021)
Treatment with rapamycin can restore regulatory T-cell function in IPEX patients
Laura Passerini et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2020)
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score
Victoria Katharina Tesch et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2020)
CRISPR-based gene editing enables FOXP3 gene repair in IPEX patient cells
M. Goodwin et al.
SCIENCE ADVANCES (2020)
Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance
Zinan Zhang et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2019)
A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation
Isabel Z. Fernandez et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2019)
Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis
Nina K. Serwas et al.
NATURE COMMUNICATIONS (2019)
Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency
Ayca Kiykim et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE (2019)
Bach2 Deficiency Leads to Spontaneous Expansion of IL-4-Producing T Follicular Helper Cells and Autoimmunity
Heng Zhang et al.
FRONTIERS IN IMMUNOLOGY (2019)
Primary immunodeficiencies caused by mutations in actin regulatory proteins
Erin Janssen et al.
IMMUNOLOGICAL REVIEWS (2019)
Dose-escalated interleukin-2 therapy for refractory chronic graft-versus-host disease in adults and children
Jennifer S. Whangbo et al.
BLOOD ADVANCES (2019)
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects
Charlotte Schwab et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2018)
Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation
Fayhan J. Alroqi et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2018)
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study
Federica Barzaghi et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2018)
Overview of the Cytoskeleton from an Evolutionary Perspective
Thomas D. Pollard et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2018)
T Follicular Helper Cells in Autoimmune Disorders
Noemie Gensous et al.
FRONTIERS IN IMMUNOLOGY (2018)
A Rapamycin-Based GMP-Compatible Process for the Isolation and Expansion of Regulatory T Cells for Clinical Trials
Henrieta Fraser et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2018)
Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome
Eleonora Gambineri et al.
FRONTIERS IN IMMUNOLOGY (2018)
DOCK8 enforces immunological tolerance by promoting IL-2 signaling and immune synapse formation in Tregs
Erin Janssen et al.
JCI INSIGHT (2017)
DOCK8 deficiency: Insights into pathophysiology, clinical features and management
Catherine M. Biggs et al.
CLINICAL IMMUNOLOGY (2017)
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency
Behdad Afzali et al.
NATURE IMMUNOLOGY (2017)
A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton
Erin Janssen et al.
JOURNAL OF CLINICAL INVESTIGATION (2016)
mTOR inhibitors effects on regulatory T cells and on dendritic cells
Giovanni Stallone et al.
JOURNAL OF TRANSLATIONAL MEDICINE (2016)
Monitoring regulatory T cells in clinical samples: consensus on an essential marker set and gating strategy for regulatory T cell analysis by flow cytometry
Saskia J. A. M. Santegoets et al.
CANCER IMMUNOLOGY IMMUNOTHERAPY (2015)
Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation
Da-Wei Liu et al.
PEDIATRIC BLOOD & CANCER (2015)
Superiority of Rapamycin Over Tacrolimus in Preserving Nonhuman Primate Treg Half-Life and Phenotype After Adoptive Transfer
K. Singh et al.
AMERICAN JOURNAL OF TRANSPLANTATION (2014)
Follicular bronchiolitis as phenotype associated with CD25 deficiency
L. Bezrodnik et al.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2014)
Exacerbated experimental arthritis in Wiskott-Aldrich syndrome protein deficiency: Modulatory role of regulatory B cells
Gerben Bouma et al.
EUROPEAN JOURNAL OF IMMUNOLOGY (2014)
Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells
Erin Janssen et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2014)
Bach2 Regulates Homeostasis of Foxp3+ Regulatory T Cells and Protects against Fatal Lung Disease in Mice
Eui Ho Kim et al.
JOURNAL OF IMMUNOLOGY (2014)
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
Desiree Schubert et al.
NATURE MEDICINE (2014)
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
Hye Sun Kuehn et al.
SCIENCE (2014)
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity
Kevin Goudy et al.
CLINICAL IMMUNOLOGY (2013)
Bach2 maintains T cells in a naive state by suppressing effector memory-related genes
Shin-ichi Tsukumo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Forkhead Transcription Factor FOXP3 Upregulates CD25 Expression through Cooperation with RelA/NF-κB
Cristina Camperio et al.
PLOS ONE (2012)
Competition for IL-2 between regulatory and effector T cells to chisel immune responses
Thomas Hoefer et al.
FRONTIERS IN IMMUNOLOGY (2012)
Regulation of IL-2 gene expression by Siva and FOXP3 in human T cells
Virginia K. Hench et al.
BMC IMMUNOLOGY (2011)
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
Karin R. Engelhardt et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2009)
Combined Immunodeficiency Associated with DOCK8 Mutations
Qian Zhang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
CTLA4 expression is an indicator and regulator of steady-state CD4+FoxP3+ T cell homeostasis
Anita L. Tang et al.
JOURNAL OF IMMUNOLOGY (2008)
CTLA-4 control over Foxp3+ regulatory T cell function
Kajsa Wing et al.
SCIENCE (2008)
Nonredundant roles for Stat5a/b in directly regulating Foxp3
Zhengju Yao et al.
BLOOD (2007)
Foxp3-dependent programme of regulatory T-cell differentiation
Marc A. Gavin et al.
NATURE (2007)
Wiskott-Aldrich syndrome protein is required for regulatory T cell homeostasis
Stephanie Humblet-Baron et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Epigenetic control of the foxp3 locus in regulatory T cells
Stefan Floess et al.
PLOS BIOLOGY (2007)
CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes
Amy A. Caudy et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2007)
Identification of a DOCK180-related guanine nucleotide exchange factor that is capable of mediating a positive feedback activation of Cdc42
Qiong Lin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Cutting edge:: Decreased accumulation and regulatory function of CD4+CD25high T cells in human STAT 5b deficiency
Aileen C. Cohen et al.
JOURNAL OF IMMUNOLOGY (2006)
Expression of interleukin (IL)-2 and IL-7 receptors discriminates between human regulatory and activated T cells
Nabila Seddiki et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2006)
Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution
RH Buckley
ANNUAL REVIEW OF IMMUNOLOGY (2004)
Growth hormone insensitivity associated with a STAT5b mutation
EM Kofoed et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
Autoimmunity in Wiskott-Aldrich syndrome
SH Schurman et al.
CURRENT OPINION IN RHEUMATOLOGY (2003)
Interleukin 2 signaling is required for CD4+ regulatory T cell function
GC Furtado et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2002)
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
RS Wildin et al.
NATURE GENETICS (2001)
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
CL Bennett et al.
NATURE GENETICS (2001)
JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome
TA Chatila et al.
JOURNAL OF CLINICAL INVESTIGATION (2000)
Impaired interienkin-2 production in T-cells from a patient with Wiskott-Aldrich syndrome: basis of clinical effect of interleukin-2 replacement therapy
H Azuma et al.
EUROPEAN JOURNAL OF PEDIATRICS (2000)
The role of Stat5a and Stat5b in signaling by IL-2 family cytokines
JX Lin et al.
ONCOGENE (2000)