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JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Rivista
Codice:
E090409
ISSN:
0091-6749
Dati Generali
Dati Generali
Pubblicazioni (68)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency
Articolo
A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency
Articolo
A large-scale genetic analysis reveals an autoimmune origin of idiopathic retroperitoneal fibrosis
Articolo
A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency
Articolo
A novel mutation in the POLE2 gene causing combined immunodeficiency
Articolo
A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actincytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding
Articolo
A possible role for B cells in COVID-19? Lesson from patients with agammaglobulinemia
Articolo
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Articolo
Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation.
Articolo
Antibody responses to the SARS-CoV-2 vaccine in individuals with various inborn errors of immunity
Articolo
Association of a TNFSF13B (BAFF) regulatory region single nucleotide polymorphism with response to rituximab in antineutrophil cytoplasmic antibody–associated vasculitis
Articolo
Asthmatic patients in COVID-19 outbreak: Few cases despite many cases
Articolo
Autonomous role of Wiskott-Aldrich Syndrome platelet deficiency in inducing autoimmunity and inflammation
Articolo
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia
Articolo
Bruton tyrosine kinase mediates TLR9-dependent human dendritic cell activation.
Articolo
Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
Articolo
Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.
Articolo
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study
Articolo
Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections
Articolo
Combined DOCK8 and CLEC7A mutations causing immunodeficiency in three brothers with diarrhea, eczema and infections.
Articolo
Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity
Articolo
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study
Articolo
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome
Articolo
Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices
Articolo
Defect of regulatory T cells in patients with Omenn syndrome
Articolo
Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease
Articolo
Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis.
Articolo
Disseminated Mycobacterium genavense infection after immunosuppressive therapy shows underlying new composite heterozygous mutations of β1 subunit of IL-12 receptor gene.
Articolo
Double-blind, placebo-controlled, randomized trial on low-dose azithromycin prophylaxis in patients with primary antibody deficiencies
Articolo
Early and late B-cell developmental impairment in nuclear factor kappa B, subunit 1-mutated common variable immunodeficiency disease
Articolo
Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation
Articolo
Engrafted maternal T cells in human severe combined immunodeficiency: evidence for a Th2-phenotype and for a potential role of apoptosis on the restriction of T-cell receptor variable beta segment usage.
Articolo
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects
Articolo
Fcγ-receptor 3B (FCGR3B) copy number variations in patients with eosinophilic granulomatosis with polyangiitis
Articolo
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency
Articolo
Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype.
Articolo
Haematopoietic stem cell transplantation for CTLA-4 insufficiency across Europe: an EBMT Inborn Errors Working Party study
Recensione
Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment
Articolo
ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency
Articolo
Identification of a subset of human natural killer cells expressing high levels of programmed death 1: A phenotypic and functional characterization
Articolo
Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations
Articolo
Induced pluripotent stem cells: A novel frontier in the study of human primary immunodeficiencies.
Articolo
J. A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.
Articolo
Lentiviral-mediated gene therapy leads to improvement of B-cell functionality in a murine model of Wiskott-Aldrich syndrome
Articolo
Leucine-rich repeat containing 8A (LRRC8A)-dependent volume-regulated anion channel activity is dispensable for T-cell development and function
Articolo
Long term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality
Articolo
Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency
Articolo
Memory B-cell subsets as a predictive marker of outcome in hypogammaglobulinemia during infancy.
Articolo
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
Articolo
Natural killer cell hyporesponsiveness and impaired development in a CD247-deficient patient
Articolo
Novel insights from adaptor protein 3 complex deficiency
Articolo
Novel presentation of Omenn syndrome in association with aniridia.
Articolo
P85α is an intrinsic regulator of human natural killer cell effector functions
Articolo
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects
Articolo
Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification
Articolo
Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome
Articolo
Reduced thymic output, cell cycle abnormalities, and increasedapoptosis of T lymphocytes in patients with cartilage-hair hypoplasia
Articolo
Reply
Articolo
Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: analysis of function and distribution in lymphoid organs.
Articolo
Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis.
Articolo
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
Articolo
The loss of IgM memory b cells correlates with the clinical disease in common variable immunodeficiency.
Articolo
Therapeutic options for CTLA-4 Insufficiency
Articolo
Thymus Transplantation for Complete Digeorge Syndrome: European Experience
Articolo
Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.
Articolo
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias
Articolo
ZAP70 deficiency in humans is associated with abnormalities of thymic stromal cells: implications for T cell tolerance
Articolo
ζ Chain-associated protein of 70 kDa (ZAP70) deficiency in human subjects is associated with abnormalities of thymic stromal cells: Implications for T-cell tolerance
Articolo
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