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CLINICAL IMMUNOLOGY
Rivista
Codice:
E038231
ISSN:
1521-6616
Dati Generali
Dati Generali
Pubblicazioni (54)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A de novo monoallelic CTLA-4 deletion causing pediatric onset CVID with recurrent autoimmune cytopenias and severe enteropathy.
Articolo
A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1)
Articolo
A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1
Articolo
A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1
Articolo
Altered DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutières syndrome
Articolo
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype
Articolo
BAFF-R mutations in Good's syndrome.
Articolo
BCGosis: A Warning Sign for Primary Immunodeficiency
Abstract
Beta2 integrins are required for follicular helper T cell differentiation in humans
Articolo
CTLA-4 regulates human Natural Killer cell effector functions
Articolo
Characterization of gamma-delta T cells expressing CD158b, a killer cell inhibitory receptor, in a patient with chronic CD4+ lymphocytopenia and disseminated Mycobacterium intracellulare infection.
Articolo
Chronic Granulomatous Disease in children: a single center experience
Articolo
Clinical and molecular features of X-linked hyper IgM syndrome – An experience from North India
Articolo
Clinical features, long-term follow-up and outcome of a large cohort of patients with chronic granulomatous disease: an Italian multicelter study.
Articolo
Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
Articolo
Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease
Articolo
Clinical manifestations and gastrointestinal pathology in 40 patients with autoimmune enteropathy
Articolo
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.
Articolo
Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study.
Articolo
Combined decrease of defined B- and T-cell subsets in a group of common variable immunodeficiency patients.
Articolo
Complete CD95/FAS deficiency due to complex homozygous germline TNFRSF6 mutations in an adult patient with mild autoimmune lymphoproliferative syndrome (ALPS)
Articolo
Correction of Human RAG1 Mutations Resulting in Omenn Syndrome Using Specific Homing Endonucleases
Abstract
Correlation of bone marrow abnormalities, peripheral lymphocyte subsets and clinical features in uncomplicated common variable immunodeficiency (CVID) patients
Articolo
Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization
Articolo
Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity.
Articolo
Expansion of CCR4+ activated T cells is associated with memory B cell reduction in DOCK8-deficient patients.
Articolo
Fatal SARS-CoV-2 infection in a male patient with Good's syndrome
Articolo
Homozygous DNA Ligase IV R278H Mutation in Mice Leads to Leaky Scid and Represents A Model For Human LIG4 Syndrome
Abstract
ICOS deficiency in patients with common variable immunodeficiency
Articolo
IFN-α levels in ruxolitinib-treatead Aicardi-Goutières patient during SARS-CoV-2 infection: A case report
Articolo
Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.
Articolo
Lack of DOCK8 impairs the primary biologic functions of human NK cells and abrogates CCR7 surface expression in a WASP-independent manner
Articolo
Lack of iNKT Cells and Defects on Differentiation of Dendritic Cells in Patients with Hermansky-Pudlak Type 2 Syndrome (HPS2)
Abstract
Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications
Articolo
Maternal T-cell engraftment impedes with diagnosis of a SCID-ADA patient
Articolo
Mycoplasma infection may complicate the clinical course of SARS-Co-V-2 associated Kawasaki-like disease in children
Articolo
NFKB1 regulates human NK cell maturation and effector functions
Articolo
NFKB2 regulates human Tfh and Tfr pool formation and germinal center potential
Articolo
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay
Articolo
Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ
Articolo
Peripheral accumulation of newly produced T and B lymphocytes in natalizumab-treated multiple sclerosis patients
Articolo
Progressive severe B cell and NK cell deficiency with T cell senescence in adult CD40L deficiency
Articolo
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome
Articolo
Reduced germinal center follicular helper T cells but normal follicular regulatory T cells in the tonsils of a patient with a mutation in the PI3KR1 gene
Articolo
Reduced memory B cells in patients with hyper IgE syndrome.
Articolo
Reversible severe combined immunodeficiency phenotype secondaryto a mutation of the proton-coupled folate transporter.
Articolo
Search for poliovirus long-term excretors among patients affected by agammaglobulinemia.
Articolo
Simultaneous quantification of recent rhymic T-cells an bone marrow B-cell emigrants in patients with primary immunodeficiency undergone to stem cell transplantation
Articolo
Successful hematopoietic stem cell transplantation for complete CTLA-4 haploinsufficiency due to a de novo monoallelic 2q33.2-2q33.3 deletion
Articolo
Temporal viral loads in respiratory and gastrointestinal tract and serum antibody responses during SARS-CoV-2 infection in an Italian pediatric cohort
Articolo
The RAC2-PI3K axis regulates human NK cell maturation and function
Articolo
The prevalence and incidence of thrombotic primary antiphospholipid syndrome in adults aged 18-49 years: A population-based study in a mountain community in northern Italy
Articolo
Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations
Articolo
Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations
Articolo
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