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A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation

artículo científico publicado en 2017

Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.

artículo científico publicado en 2015

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

artículo científico publicado en 2013

B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency

artículo científico publicado en 2011

Changes in Healthy Human IgG Fc-Glycosylation after Birth and during Early Childhood.

artículo científico publicado en 2016

Circadian Variation of Plasminogen-Activator-Inhibitor-1 Levels in Children with Meningococcal Sepsis

artículo científico publicado en 2016

Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells.

scholarly article

Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.

artículo científico publicado en 2016

Common variable immunodeficiency and idiopathic primary hypogammaglobulinemia: two different conditions within the same disease spectrum

artículo científico publicado en 2013

Defective B-cell memory in patients with Down syndrome

artículo científico publicado en 2014

Development and Function of Immune Cells in an Adolescent Patient With a Deficiency in the Interleukin-10 Receptor

artículo científico publicado en 2017

Dissection of B-cell development to unravel defects in patients with a primary antibody deficiency

artículo científico publicado en 2011

Educational paper: Primary immunodeficiencies in children: a diagnostic challenge

artículo científico publicado en 2011

Educational paper: primary antibody deficiencies

artículo científico publicado en 2011

Evaluation of the Antigen-Experienced B-Cell Receptor Repertoire in Healthy Children and Adults

artículo científico publicado en 2016

Exhaustion of the CD8+ T Cell Compartment in Patients with Mutations in Phosphoinositide 3-Kinase Delta.

artículo científico publicado en 2018

Fatal neonatal parechovirus encephalitis

artículo científico publicado el 14 de diciembre de 2009

Gene Variations in the Protein C and Fibrinolytic Pathway: Relevance for Severity and Outcome in Pediatric Sepsis

artículo científico publicado en 2016

Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.

artículo científico publicado en 2017

HLA-DR Expression on Monocyte Subsets in Critically Ill Children.

artículo científico publicado en 2018

Hematopoietic Stem Cell Transplantation in a Patient With ICF2 Syndrome Presenting With EBV-Induced Hemophagocytic Lymphohystiocytosis.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Immunoglobulin G Fragment Crystallizable Glycosylation After Hematopoietic Stem Cell Transplantation Is Dissimilar to Donor Profiles.

artículo científico publicado en 2018

Imported malaria in children: a national surveillance in the Netherlands and a review of European studies

artículo científico publicado en 2007

Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency.

artículo científico publicado en 2016

Interferon-gamma Immunotherapy in a Patient With Refractory Disseminated Candidiasis.

artículo científico publicado en 2015

Measurement of pneumococcal polysaccharide vaccine responses for immunodeficiency diagnostics: combined IgG responses compared to serotype specific IgG responses.

artículo científico publicado en 2013

Mortality and morbidity in community-acquired sepsis in European pediatric intensive care units: a prospective cohort study from the European Childhood Life-threatening Infectious Disease Study (EUCLIDS).

artículo científico publicado en 2018

Neutrophil Extracellular Traps in Children With Meningococcal Sepsis

artículo científico publicado en 2018

New frontiers of primary antibody deficiencies.

artículo científico publicado en 2011

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

artículo científico

Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening

artículo científico publicado en 2015

Persistent subclinical immune defects in HIV-1-infected children treated with antiretroviral therapy

artículo científico publicado en 2015

Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes

artículo científico publicado en 2014

Strategies for B-cell receptor repertoire analysis in primary immunodeficiencies: from severe combined immunodeficiency to common variable immunodeficiency

artículo científico

Sustained Viral Suppression in HIV-infected Children on Once-daily Lopinavir/Ritonavir in Clinical Practice

artículo científico publicado en 2017

The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency

artículo científico publicado en 2015

Travel-related morbidity in children: a prospective observational study

artículo científico publicado en 2011

Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans

artículo científico publicado en 2013