Inborn Errors of Adaptive Immunity in Down Syndrome

A Prevalent CXCR3+ Phenotype of Circulating Follicular Helper T Cells Indicates Humoral Dysregulation in Children with Down Syndrome

(2020) Giorgio Ottaviano et al.   JOURNAL OF CLINICAL 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

Integrated scRNA-Seq Identifies Human Postnatal Thymus Seeding Progenitors and Regulatory Dynamics of Differentiating Immature Thymocytes

(2020) Marieke Lavaert et al.   IMMUNITY

Respiratory tract infection-related healthcare utilisation in children with Down’s syndrome

(2020) Logan Manikam et al.   INFECTION

Infection risk among adults with down syndrome: a two group series of 101 patients in a tertiary center

(2019) Aurélien Guffroy et al.   Orphanet Journal of Rare Diseases

Dementia in Down syndrome: unique insights for Alzheimer disease research

(2019) Ira T. Lott et al.   Nature Reviews Neurology

T follicular helper cell heterogeneity: Time, space, and function

(2019) Wenzhi Song et al.   IMMUNOLOGICAL REVIEWS

T Follicular Helper Cell Biology: A Decade of Discovery and Diseases

(2019) Shane Crotty   IMMUNITY

Hidradenitis suppurativa in patients with Down syndrome

(2019) S. Veraldi et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

Quantification of T-Cell and B-Cell Replication History in Aging, Immunodeficiency, and Newborn Screening

(2019) Ruud H. J. Verstegen et al.   Frontiers in Immunology

Clinical implications of immune‐mediated diseases in children with Down syndrome

(2019) Ruud H. J. Verstegen et al.   PEDIATRIC ALLERGY AND IMMUNOLOGY

Trisomy 21 dysregulates T cell lineages toward an autoimmunity-prone state associated with interferon hyperactivity

(2019) Paula Araya et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome

(2019) Katherine A. Waugh et al.   Cell Reports

Increased T cell plasticity with dysregulation of T follicular helper, T peripheral helper and T regulatory cell responses in children with JIA and Down syndrome‐associated arthritis

(2019) C Foley et al.   Arthritis & Rheumatology

Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation

(2019) Janet Chou et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The T H 1 phenotype of follicular helper T cells indicates an IFN-γ–associated immune dysregulation in patients with CD21low common variable immunodeficiency

(2018) Susanne Unger et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Integrated Quantitative Transcriptome Maps of Human Trisomy 21 Tissues and Cells

(2018) Maria Chiara Pelleri et al.   Frontiers in Genetics

Down Syndrome and the Risk of Severe RSV Infection: A Meta-analysis

(2018) Andrea A. Beckhaus et al.   PEDIATRICS

Hassall’s corpuscles with cellular-senescence features maintain IFNα production through neutrophils and pDC activation in the thymus

(2018) Jianwei Wang et al.   INTERNATIONAL IMMUNOLOGY

The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data

(2018) Irina Odnoletkova et al.   Orphanet Journal of Rare Diseases

Identification of CVID Patients With Defects in Immune Repertoire Formation or Specification

(2018) Pauline A. van Schouwenburg et al.   Frontiers in Immunology

The Pattern of Malignancies in Down Syndrome and Its Potential Context With the Immune System

(2018) Daniel Satgé et al.   Frontiers in Immunology

Dysregulated miR-155 and miR-125b Are Related to Impaired B-cell Responses in Down Syndrome

(2018) Chiara Farroni et al.   Frontiers in Immunology

Quantitative, Phenotypical, and Functional Characterization of Cellular Immunity in Children and Adolescents With Down Syndrome

(2017) Justine Schoch et al.   JOURNAL OF INFECTIOUS DISEASES

Lower percentage of allergic sensitization in children with Down syndrome

(2017) N. B. Eijsvoogel et al.   PEDIATRIC ALLERGY AND IMMUNOLOGY

Oxidative stress affects processing of amyloid precursor protein in vascular endothelial cells

(2017) Abebe Muche et al.   PLoS One

Thymic output: Assessment of CD4+ recent thymic emigrants and T-Cell receptor excision circles in infants

(2016) Eugene Ravkov et al.   CYTOMETRY PART B-CLINICAL CYTOMETRY

Low risk of solid tumors in persons with Down syndrome

(2016) Henrik Hasle et al.   GENETICS IN MEDICINE

Assessment of lymphocyte proliferation for diagnostic purpose: Comparison of CFSE staining, Ki-67 expression and 3H-thymidine incorporation

(2016) Jan Lašťovička et al.   HUMAN IMMUNOLOGY

Altered immune parameters correlate with infection-related hospitalizations in children with Down syndrome

(2016) Elizabeth Martínez et al.   HUMAN IMMUNOLOGY

Down syndrome and the complexity of genome dosage imbalance

(2016) Stylianos E. Antonarakis   NATURE REVIEWS GENETICS

MicroRNA-155 influences B-cell function through PU.1 in rheumatoid arthritis

(2016) Stefano Alivernini et al.   Nature Communications

Modular transcriptional repertoire and MicroRNA target analyses characterize genomic dysregulation in the thymus of Down syndrome infants

(2016) Carlos Alberto Moreira-Filho et al.   Oncotarget

Trisomy 21 consistently activates the interferon response

(2016) Kelly D Sullivan et al.   eLife

Down syndrome individuals with Alzheimer's disease have a distinct neuroinflammatory phenotype compared to sporadic Alzheimer's disease

(2015) Donna M. Wilcock et al.   NEUROBIOLOGY OF AGING

Decrease of interleukin (IL)17A gene expression in leucocytes and in the amount of IL-17A protein in CD4+ T cells in children with Down Syndrome

(2015) Anna Jakubiuk-Tomaszuk et al.   Pharmacological Reports

Generation of switched memory B cells in response to vaccination in Down syndrome children and their siblings

(2015) Diletta Valentini et al.   VACCINE

Epidemiology of respiratory symptoms in children with Down syndrome: a nationwide prospective web-based parent-reported study

(2014) Ruud HJ Verstegen et al.   BMC Pediatrics

Reduced numbers of switched memory B cells with high terminal differentiation potential in Down syndrome

(2014) Rita Carsetti et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Defective B-cell memory in patients with Down syndrome

(2014) Ruud H.J. Verstegen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation

(2014) Menno C. van Zelm et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Altered Expression of Autoimmune Regulator in Infant Down Syndrome Thymus, a Possible Contributor to an Autoimmune Phenotype

(2014) Gabriel Skogberg et al.   JOURNAL OF IMMUNOLOGY

Autoimmune Predisposition in Down Syndrome May Result from a Partial Central Tolerance Failure due to Insufficient Intrathymic Expression ofAIREand Peripheral Antigens

(2014) Mireia Giménez-Barcons et al.   JOURNAL OF IMMUNOLOGY

Domains of genome-wide gene expression dysregulation in Down’s syndrome

(2014) Audrey Letourneau et al.   NATURE

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations

(2014) Sergey I. Nikolaev et al.   Nature Communications

Changes in mortality and causes of death in the Swedish Down syndrome population

(2013) Annika Englund et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Adaptive Downregulation of Mitochondrial Function in Down Syndrome

(2013) Pablo Helguera et al.   Cell Metabolism

Low hepatitis B vaccine response in children with Down syndrome from Brazil

(2013) R. Nisihara et al.   CHILD CARE HEALTH AND DEVELOPMENT

Identification of dysregulated microRNAs in lymphocytes from children with Down syndrome

(2013) Yong Xu et al.   GENE

Defective thymic progenitor development and mature T-cell responses in a mouse model for Down syndrome

(2013) Laureanne P. E. Lorenzo et al.   IMMUNOLOGY

Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity

(2013) Gertjan J. Driessen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years

(2013) Antonia Kwan et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases

(2013) Ruud H.J. Verstegen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Impairment of Regulatory T-Cell Function in Autoimmune Thyroid Disease

(2013) Abigail B. Glick et al.   THYROID

Functionality of the pneumococcal antibody response in down syndrome subjects

(2013) M.A.A. Kusters et al.   VACCINE

Frequency of lower respiratory tract infections in relation to adaptive immunity in children with Down syndrome compared to their healthy siblings

(2012) Chantal JM Broers et al.   ACTA PAEDIATRICA

IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients

(2012) S. Weller et al.   BLOOD

Down syndrome, autoimmunity and T regulatory cells

(2012) F. P. Pellegrini et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Experimental and natural infections in MyD88- and IRAK-4-deficient mice and humans

(2012) Horst von Bernuth et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Increased circulating apoptotic lymphocytes in children with Down syndrome

(2012) Eugenie F.A. Gemen et al.   PEDIATRIC BLOOD & CANCER

Recurrent wheeze in children with Down syndrome: is it asthma?

(2011) Michel E Weijerman et al.   ACTA PAEDIATRICA

Follicular Helper CD4 T Cells (TFH)

(2011) Shane Crotty   Annual Review of Immunology

Antioxidants in Down syndrome

(2011) Ira T. Lott   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Long-term restoration of the human T-cell compartment after thymectomy during infancy: a role for thymic regeneration?

(2011) R. van Gent et al.   BLOOD

Human memory B cells originate from three distinct germinal center-dependent and -independent maturation pathways

(2011) M. A. Berkowska et al.   BLOOD

Immunological aspects of 22q11.2 deletion syndrome

(2011) A. R. Gennery   CELLULAR AND MOLECULAR LIFE SCIENCES

Immune Dysregulation after Cardiothoracic Surgery and Incidental Thymectomy: Maintenance of Regulatory T Cells despite Impaired Thymopoiesis

(2011) Nancy J. Halnon et al.   Clinical & Developmental Immunology

Decreased AIRE Expression and Global Thymic Hypofunction in Down Syndrome

(2011) F. A. Lima et al.   JOURNAL OF IMMUNOLOGY

Decreased Thymic Output Accounts for Decreased Naive T Cell Numbers in Children with Down Syndrome

(2011) Beatrijs L. P. Bloemers et al.   JOURNAL OF IMMUNOLOGY

The thymic epithelial microRNA network elevates the threshold for infection-associated thymic involution via miR-29a mediated suppression of the IFN-α receptor

(2011) Aikaterini S Papadopoulou et al.   NATURE IMMUNOLOGY

Decreased Response After Conjugated Meningococcal Serogroup C Vaccination in Children With Down Syndrome

(2011) Maaike A. Kusters et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Health Supervision for Children With Down Syndrome

(2011) M. J. Bull et al.   PEDIATRICS

Sonographic thymic measurements in Down syndrome fetuses

(2011) Juan De Leon-Luis et al.   PRENATAL DIAGNOSIS

Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteins

(2011) Terry S. Elton et al.   RNA Biology

Prevalence of positive skin prick test results in children with Down syndrome: a case-control study

(2010) Susan E. Mannan et al.   ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY

Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients

(2010) M. van der Burg et al.   BLOOD

Complement receptor 2/CD21- human naive B cells contain mostly autoreactive unresponsive clones

(2010) I. Isnardi et al.   BLOOD

Immunoregulatory CD4+ CD45R+ suppressor/inducer T lymphocyte subsetsand impaired cell-mediated immunity in patients with Down's syndrome

(2010) S. RAZIUDDIN et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Regulatory T cell defect in APECED patients is associated with loss of naive FOXP3+ precursors and impaired activated population

(2010) Sini M. Laakso et al.   JOURNAL OF AUTOIMMUNITY

IMPAIRED AVIDITY MATURATION AFTER TETANUS TOXOID BOOSTER IN CHILDREN WITH DOWN SYNDROME

(2010) Maaike A. Kusters et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Both Normal Memory Counts and Decreased Naive Cells Favor Intrinsic Defect Over Early Senescence of Down Syndrome T Lymphocytes

(2010) Maaike A A Kusters et al.   PEDIATRIC RESEARCH

Down Syndrome B-Lymphocyte Subpopulations, Intrinsic Defect or Decreased T-Lymphocyte Help

(2010) Ruud H J Verstegen et al.   PEDIATRIC RESEARCH

Intrinsic defect of the immune system in children with Down syndrome: a review

(2009) M. A. A. Kusters et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Health of Children 3 to 17 Years of Age With Down Syndrome in the 1997-2005 National Health Interview Survey

(2009) L. A. Schieve et al.   PEDIATRICS

Okadaic acid induces apoptosis in Down syndrome fibroblasts

(2009) G. Dogliotti et al.   TOXICOLOGY IN VITRO

T Follicular Helper (TFH) Cells in Normal and Dysregulated Immune Responses

(2008) Cecile King et al.   Annual Review of Immunology

IRAK-4- and MyD88-Dependent Pathways Are Essential for the Removal of Developing Autoreactive B Cells in Humans

(2008) Isabelle Isnardi et al.   IMMUNITY

MicroRNAs: new regulators of immune cell development and function

(2008) David Baltimore et al.   NATURE IMMUNOLOGY

DNA damage and repair in children with Down's syndrome

(2007) Zbigniew Morawiec et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS