A. Plebani

L. Notarangelo, A. Plebani, A. Ugazio, 1996, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Update on Treatment of Marshall's Syndrome (Pfapa Syndrome): Report of Five Cases with Review of the Literature

A. Plebani, D. Lombardi, P. Nicolai, 2003, The Annals of otology, rhinology, and laryngology.

Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency

G. Giardino, E. Cirillo, V. Lougaris, 2021, bioRxiv.

Rapid Drug Desensitization With Rituximab in 24 Cases: A Single-Center Experience

V. Lougaris, A. Plebani, A. Soresina, 2019 .

Lymphocyte alterations in patients with Common Variable Immunodeficiency (CVID) and autoimmune manifestations.

V. Lougaris, A. Plebani, R. Badolato, 2022, Clinical immunology.

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

Flavia splicing mutation STAT 1 a novel responses in cells of a patient with α and IFN-γ Severe impairment of IFN

L. Notarangelo, A. Plebani, R. Badolato, 2011 .

Thymic and Bone Marrow Output in Patients with Common Variable Immunodeficiency

M. Chiarini, V. Lougaris, A. Plebani, 2011, Journal of Clinical Immunology.

Pulmonary and Sinusal Changes in 45 Patients With Primary Immunodeficiencies: Computed Tomography Evaluation

L. Notarangelo, A. Plebani, M. Duse, 2007, Journal of computer assisted tomography.

Mutational Analysis of Human BAFF Receptor TNFRSF13C (BAFF-R) in Patients with Common Variable Immunodeficiency

L. Notarangelo, V. Lougaris, A. Plebani, 2005, Journal of Clinical Immunology.

A new immunoperoxidase assay for Lolium perenne‐specltic IgE in serum based on the biotin/avidin system (BAS)

A. Plebani, L. Nespoli, A. Ugazio, 1984, Clinical allergy.

Evaluation of the presence of bovine proteins in human milk as a possible cause of allergic symptoms in breast-fed children.

A. Plebani, A. Ugazio, P. Restani, 2000, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

B – helper neutrophils stimulate immunoglobulin diversification and production in the marginal zone of the spleen

S. Serrano, J. Lloreta, J. Casanova, 2016 .

Determination of allergenicity to three cow's milk hydrolysates and an amino acid‐derived formula in children with cow's milk allergy

A. Plebani, C. Caffarelli, G. Cavagni, 2002, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects

G. Scarano, V. Gallo, G. Giardino, 2014, BMC Medical Genetics.

Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients

M. Chiarini, V. Lougaris, A. Plebani, 2020, Journal of clinical medicine.

Evidence for antigenic selection of large granular lymphocytes in a patient with Wiskott-Aldrich syndrome.

A. Plebani, P. Airó, L. Imberti, 1995, Blood.

Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency.Defects of the gc‐JAK3 signaling pathway as a model

M. Vihinen, L. Notarangelo, A. Plebani, 2000, Immunological reviews.

Auto-immunity in children with diabetes mellitus and in their relatives

D. Larizza, R. Lorini, A. Plebani, 1986, European Journal of Pediatrics.

Preferential Th1 profile of T helper cell responses in X‐linked (Bruton′s) agammaglobulinemia

A. Plebani, M. D’Elios, A. Amedei, 2001, European journal of immunology.

A novel immunodeficiency characterized by the exclusive presence of transitional B cells unresponsive to CpG

V. Lougaris, A. Plebani, L. Nespoli, 2007, Immunology.

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort.

V. Lougaris, A. Plebani, H. Ochs, 2019, The journal of allergy and clinical immunology. In practice.

X-linked Agammaglobulinemia (BTK Deficiency)

V. Lougaris, A. Plebani, 2020, Encyclopedia of Medical Immunology.

Monoclonal and polyclonal antibodies against casein components of cow milk for evaluation of residual antigenic activity in ‘hypoallergenic’ infant formulas

A. Plebani, A. Ugazio, P. Restani, 1997, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

p85α is an intrinsic regulator of human natural killer cell effector functions.

V. Lougaris, A. Plebani, G. Tabellini, 2016, Journal of Allergy and Clinical Immunology.

CVID-Associated B Cell Activating Factor Receptor Variants Change Receptor Oligomerization, Ligand Binding, and Signaling Responses

V. Lougaris, A. Plebani, H. Eibel, 2021, Journal of Clinical Immunology.

Ontogeny of Secretory Immunity: Levels of Secretory IgA and Natural Antibodies in Saliva

A. Plebani, A. Ugazio, A. Lanzavecchia, 1980, Pediatric Research.

Early and late B-cell developmental impairment in nuclear factor kappa B, subunit 1-mutated common variable immunodeficiency disease.

V. Lougaris, A. Plebani, R. Badolato, 2017, The Journal of allergy and clinical immunology.

Proteus syndrome: evaluation of the immunological profile

V. Lougaris, A. Plebani, V. Salpietro, 2016, Orphanet Journal of Rare Diseases.

Chapter 13 – Agammaglobulinemia

V. Lougaris, A. Plebani, 2014 .

X-Chromosome Inactivation and Mutation Pattern in the Bruton’s Tyrosine Kinase Gene in Patients with X-linked Agammaglobulinemia

A. Plebani, P. Orlandi, P. Sideras, 2000, Molecular medicine.

A comparison of secretory antibodies in breast‐fed and formula‐fed infants over the first six months of life

A. Plebani, M. Avanzini, L. Hanson, 1992, Acta paediatrica.

CLINICAL HETEROGENEITY AND REVERSIBILITY OF SELECTIVE IMMUNOGLOBULIN A DEFICIENCY IN 80 CHILDREN

A. Plebani, A. Ugazio, V. Monafo, 1986, The Lancet.

patient with Wiskott-Aldrich syndrome Evidence for antigenic selection of large granular lymphocytes in a

A. Plebani, P. Airó, L. Imberti, 2011 .

IgG Subclass Deficiency in Patients with Down's Syndrome and Aberrant Hepatitis B Vaccine Response

A. Plebani, M. Wahl, M. Avanzini, 1988, Scandinavian Journal of Immunology.

Acquired immune deficiency syndrome in childhood: Impaired production of interleukin-2 by HIV (LAV/HTLV III) infected patients

A. Plebani, A. Ugazio, G. Marseglia, 1987, Infection.

NOX 5 is expressed in platelets from patients with chronic granulomatous disease

A. Plebani, F. Violi, G. Frati, 2016, Thrombosis and Haemostasis.

Activation-Induced Cytidine Deaminase Hypermutation in the Absence of Characterization of Ig Gene Somatic

P. Lipsky, A. Plebani, A. Durandy, 2008 .

Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly

A. Fischer, F. Deist, A. Plebani, 2006, Cell.

A. Plebani, E. Lanino, F. Locatelli, 2009, Pediatric transplantation.

A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.

D. Taruscio, A. Plebani, P. Revy, 2007, European Journal of Medical Genetics.

MALIGNANT FIBROUS HISTIOCYTOMA OF THE ASCENDING COLON IN A CHILD

A. Plebani, A. Ugazio, A. Meini, 1993 .

E. Cirillo, A. Plebani, C. Pignata, 2019, Journal of Clinical Immunology.

Variation of serum IgG subclass concentrations with disease activity in juvenile chronic arthritis.

A. Plebani, A. Martini, M. Avanzini, 1989, Annals of the rheumatic diseases.

Recurrent extended HLA haplotypes in children with selective IgA deficiency.

M. Martinetti, A. Plebani, F. de Paoli, 1989, Tissue antigens.

Recurrent Bleedings in Newborn: A Factor VII Deficiency Case Report

A. Plebani, S. Siboni, C. Distefano, 2018, Transfusion Medicine and Hemotherapy.

Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features

V. Lougaris, A. Plebani, R. Badolato, 2005, Immunological reviews.

Intestinal bacteria trigger T cell-independent immunoglobulin A(2) class switching by inducing epithelial-cell secretion of the cytokine APRIL.

A. Plebani, M. Rescigno, V. Villanacci, 2007, Immunity.

Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?

A. Izzotti, A. Plebani, S. Giliani, 2013, Autoimmunity reviews.

Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

B. Lambrecht, A. Fischer, E. López-Granados, 2020, Journal of Allergy and Clinical Immunology.

Predominantly Antibody Deficiencies

V. Lougaris, A. Plebani, H. Kanegane, 2021, Reference Module in Biomedical Sciences.

Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients.

V. Lougaris, A. Plebani, R. Badolato, 2010, Blood.

Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.

Luigi D Notarangelo, L. Notarangelo, A. Plebani, 2009, The Journal of allergy and clinical immunology.

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.

A. Schäffer, E. Gertz, A. Plebani, 2010, The Journal of allergy and clinical immunology.

Defect of regulatory T cells in patients with Omenn syndrome.

L. Notarangelo, A. Plebani, R. Badolato, 2010, The Journal of allergy and clinical immunology.

Reduced Atherosclerotic Burden in Subjects With Genetically Determined Low Oxidative Stress

E. Cirillo, A. Plebani, C. Pignata, 2013, Arteriosclerosis, thrombosis, and vascular biology.

Prospective Study on CVID Patients with Adverse Reactions to Intravenous or Subcutaneous IgG Administration

A. Plebani, C. Agostini, A. Matucci, 2008, Journal of Clinical Immunology.

NADPH Oxidase in Human Dendritic Cells Toll Receptor-Mediated Regulation of

A. Plebani, S. Sozzani, E. Borroni, 2012 .

Toll Receptor-Mediated Regulation of NADPH Oxidase in Human Dendritic Cells1

L. Notarangelo, A. Plebani, R. Badolato, 2004, The Journal of Immunology.

Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease.

L. Dotta, G. Giardino, V. Lougaris, 2016, Clinical immunology.

Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study.

A. Plebani, C. Pignata, M. Chiriacò, 2009, Molecular immunology.

Non-specific oral and cutaneous manifestations of Coronavirus Disease 2019 in children

V. Lougaris, A. Plebani, A. Meini, 2021, Medicina oral, patologia oral y cirugia bucal.

Initial presenting manifestations in 16,486 patients with Inborn Errors of Immunity include infections and non-infectious manifestations.

Nurit Assia Batzir, K. Schwarz, D. Foell, 2021, The Journal of allergy and clinical immunology.

Common variants at PVT1, ATG13–AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency

V. Lougaris, A. Plebani, J. Litzman, 2016, Nature Genetics.

Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency.

L. Notarangelo, A. Plebani, N. Kutukculer, 2003, The Journal of pediatrics.

Early Identification of Lung Fungal Infections in Chronic Granulomatous Disease (CGD) Using Multidetector Computer Tomography

V. Lougaris, A. Plebani, A. Soresina, 2016, Journal of Clinical Immunology.

A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia

R. Zannolli, A. Plebani, L. Chessa, 2012, Movement disorders : official journal of the Movement Disorder Society.

Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.

V. Lougaris, A. Plebani, R. Badolato, 2017, Clinical immunology.

Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies.

L. Dotta, V. Lougaris, A. Plebani, 2019, The journal of allergy and clinical immunology. In practice.

Chronic Granulomatous Disease in children: a single center experience.

A. Plebani, L. Imberti, A. Soresina, 2017, Clinical immunology.

Implications of gluten exposure period, CD clinical forms, and HLA typing in the association between celiac disease and dental enamel defects in children. A case-control study.

A. Plebani, A. Polimeni, G. Campus, 2010, International journal of paediatric dentistry.

HLA typing in the association b Implications of gluten exposure period , CD clinical forms , and etween celiac disease and dental enamel defects in children . A case – control study

A. Plebani, A. Polimeni, G. Campus, 2010 .

Emergence of Letermovir-resistant HCMV UL56 mutant during rescue treatment in a liver transplant recipient with ganciclovir-resistant infection HCMV: a case report

F. Baldanti, A. Plebani, S. Paolucci, 2021, BMC Infectious Diseases.

Serum immunoglobulin levels in heterozygous subjects with immunoglobulin heavy chain constant region gene deletions

A. Plebani, A. Brusco, S. Depelchin, 1995, International journal of clinical & laboratory research.

Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.

A. Fischer, A. Plebani, J. Litzman, 2004, Clinical immunology.

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

V. Lougaris, A. Plebani, S. Giliani, 2015, Clinical immunology.

The Tec Kinase–Regulated Phosphoproteome Reveals a Mechanism for the Regulation of Inhibitory Signals in Murine Macrophages

A. Plebani, Alejandro Wolf-Yadlin, D. Rawlings, 2015, The Journal of Immunology.

Gene deletion as a cause of associated deficiency of IgA1, IgG2, IgG4 and IgE.

A. Plebani, A. Bottaro, A. Carbonara, 1993, Immunodeficiency.

Viral Double-Stranded RNA Triggers Ig Class Switching by Activating Upper Respiratory Mucosa B Cells through an Innate TLR3 Pathway Involving BAFF1

A. Plebani, B. He, Weifeng Xu, 2008, The Journal of Immunology.

Soluble BAFF Levels Inversely Correlate with Peripheral B Cell Numbers and the Expression of BAFF Receptors

V. Lougaris, A. Plebani, J. Litzman, 2012, The Journal of Immunology.

The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88

R. Döffinger, J. Casanova, A. Plebani, 2010, Nature Immunology.

Fine-Scale Mapping at IGAD1 and Genome-Wide Genetic Linkage Analysis Implicate HLA-DQ/DR as a Major Susceptibility Locus in Selective IgA Deficiency and Common Variable Immunodeficiency 1

A. Plebani, J. Královičová, I. Vořechovský, 2003, The Journal of Immunology.

Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition.

A. Plebani, I. Vořechovský, L. Hammarström, 1999, American journal of human genetics.

From Natural Killer Cell Receptor Discovery to Characterization of Natural Killer Cell Defects in Primary Immunodeficiencies

L. Notarangelo, V. Lougaris, A. Plebani, 2019, Front. Immunol..

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.

Bodo Grimbacher, Alejandro A Schäffer, Giacomo Tampella, 2012, American journal of human genetics.

Evaluation by SDS‐PAGE and immunoblotting of residual antigenicity in hydrolysed protein formulas

A. Muraro, A. Plebani, A. Ugazio, 1995, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

SH2‐domain mutations in STAT3 in hyper‐IgE syndrome patients result in impairment of IL‐10 function

A. Plebani, R. Badolato, F. Bazzoni, 2011, European journal of immunology.

Known and potential molecules associated with altered B cell development leading to predominantly antibody deficiencies

V. Lougaris, A. Plebani, A. Durandy, 2021, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα)

V. Lougaris, A. Plebani, R. Hoyos-Bachiloglu, 2021, Science Immunology.

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.

A. Fischer, C. Bodemer, J. Casanova, 2011, Blood.

The change in Ig regulation from children to adults disconnects the correlation with the 3′RR hs1.2 polymorphism

A. Plebani, C. Gargioli, V. Giambra, 2014, BMC Immunology.

Agammaglobulinemias: Basic Pathogenesis and Clinical Spectrum

V. Lougaris, A. Plebani, 2015 .

Autosomal Recessive Agammaglobulinemia: A Novel Non-sense Mutation in CD79a

V. Lougaris, A. Plebani, N. Rezaei, 2014, Journal of Clinical Immunology.

Mutations of the Igβ gene cause agammaglobulinemia in man

V. Lougaris, A. Plebani, M. Reth, 2007, The Journal of experimental medicine.

Re‐immunisation schedule in leukaemic children after intensive chemotherapy: a possible strategy

A. Plebani, R. Haupt, F. Fioredda, 2005, European journal of haematology.

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

L. Notarangelo, J. Walter, V. Lougaris, 2017, Front. Immunol..

Allele *1 of HS1.2 Enhancer Associates with Selective IgA Deficiency and IgM Concentration1

A. Plebani, V. Giambra, D. Frezza, 2009, The Journal of Immunology.

Intravenous gammaglobulin therapy for prophylaxis of infection in high-risk neonates.

A. Plebani, A. Ugazio, G. Rondini, 1987, The Journal of pediatrics.

Recurrent infections in children with "selective" IgA deficiency: association with IgG2 and IgG4 deficiency.

A. Plebani, A. Ugazio, T. Out, 1983, Birth defects original article series.

Intravenous Gammaglobulin Replacement for Prophylaxis of Infection in Preterm Neonates

A. Plebani, A. Ugazio, G. Rondini, 1987 .

Immunoglobulin D enhances immune surveillance by activating antimicrobial, pro-inflammatory and B cell-stimulating programs in basophils

Melanie Wilson, Poonam Rath, Marco Cattalini, 2009, Nature Immunology.

Activity of Classical and Alternative Pathways of Complement in Preterm and Small for Gestational Age Infants

L. Notarangelo, A. Plebani, A. Ugazio, 1984, Pediatric Research.

Modeling, optimization, and comparable efficacy of T cell and hematopoietic stem cell gene editing for treating hyper‐IgM syndrome

V. Lougaris, A. Plebani, P. Rancoita, 2021, EMBO molecular medicine.

Variability of the immunoglobulin heavy chain constant region locus: a population study

A. Plebani, A. Ugazio, A. Bottaro, 1995, Human Genetics.

Familial clustering of IGHC deletions and duplications: functional and molecular analysis

A. Plebani, A. Ugazio, A. Bottaro, 2004, Immunogenetics.

Correlation of bone marrow abnormalities, peripheral lymphocyte subsets and clinical features in uncomplicated common variable immunodeficiency (CVID) patients.

V. Lougaris, A. Plebani, D. Moratto, 2016, Clinical immunology.

Correction: Corrigendum: B cell–helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

S. Serrano, J. Lloreta, J. Casanova, 2014, Nature Immunology.

IMMUNODEFICIENCY IN DOWN'S SYNDROME

A. Plebani, A. Ugazio, A. Lanzavecchia, 1978, Acta paediatrica Scandinavica.

Pancreatitis in systemic lupus erythematosus.

L. Notarangelo, A. Plebani, L. Barberis, 1983, Arthritis and rheumatism.

The Interplay between CD27dull and CD27bright B Cells Ensures the Flexibility, Stability, and Resilience of Human B Cell Memory.

A. N. Davydov, V. Lougaris, A. Plebani, 2020, Cell reports.

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

C. Bodemer, J. Casanova, A. Israël, 2006, The Journal of experimental medicine.

HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1.

A. Plebani, H. de la Salle, J. Cazenave, 1999, The Journal of clinical investigation.

A possible role for B cells in COVID-19? Lesson from patients with agammaglobulinemia

V. Lougaris, A. Plebani, O. Turriziani, 2020, Journal of Allergy and Clinical Immunology.

Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in Common Variable Immunodeficiency (CVID): A Multicenter Retrospective Study of Patients From Italian PID Referral Centers

V. Lougaris, A. Plebani, D. Consonni, 2021, Frontiers in Immunology.

Diversion of the fecal stream resolves ulcerative colitis complicating chronic granulomatous disease in an adult patient.

A. Plebani, V. Villanacci, G. Bassotti, 2007, Journal of clinical gastroenterology.

Development of systemic lupus erythematosus in a young child affected with chronic granulomatous disease following withdrawal of treatment with interferon‐γ

L. Notarangelo, A. Plebani, R. Badolato, 2003 .

BTK: 22 novel and 25 recurrent mutations in European patients with X‐linked agammaglobulinemia

L. Notarangelo, A. Plebani, A. Ugazio, 2004, Human mutation.

Use of immunoblotting and monoclonal antibodies to evaluate the residual antigenic activity of milk protein hydrolysed formulae

A. Muraro, A. Plebani, A. Ugazio, 1996, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

Clinical features and follow-up in patients with 22q11.2 deletion syndrome.

E. Cirillo, R. Consolini, A. Plebani, 2014, The Journal of pediatrics.

Dock8 Functions as an Adaptor That Links Toll-like Receptor– Myd88 Signaling to B Cell Activation Hhs Public Access

Alessandro Plebani, Rima Wakim, Kate Fitzgerald, 2022 .

Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination.

A. Fischer, A. Plebani, P. Revy, 2003, The Journal of clinical investigation.

The hyper IgE syndrome and mutations in TYK2.

A. Schäffer, A. Plebani, S. Holland, 2007, Immunity.

Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire.

L. Staudt, A. Rosenwald, J. Casanova, 2004, Blood.

Immune deficiencies , infection , and systemic immune disorders Mutations in STAT 3 and diagnostic guidelines for hyper-IgE syndrome

A. Schäffer, A. Plebani, C. Pignata, 2010 .

Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network

G. Giardino, E. Cirillo, V. Lougaris, 2019, Front. Immunol..

The italian network of primary immunodeficiencies.

L. Notarangelo, A. Plebani, A. Ugazio, 2004, Iranian journal of allergy, asthma, and immunology.

C4b-binding protein (C4BP) activates B cells through the CD40 receptor.

L. Notarangelo, A. Plebani, R. Geha, 2003, Immunity.

Nucleotide variation in Sabin type 2 poliovirus from an immunodeficient patient with poliomyelitis.

A. Plebani, L. Fiore, Javier Martin, 2003, The Journal of general virology.

Use of linezolid in infants and children: a retrospective multicentre study of the Italian Society for Paediatric Infectious Diseases.

A. Plebani, S. Esposito, S. Bosis, 2011, The Journal of antimicrobial chemotherapy.

Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency.

A. Plebani, R. Badolato, F. Colombo, 2016, Blood.

Monoallelic BAFFR P21R/H159Y Mutations and Familiar Primary Antibody Deficiencies

V. Lougaris, A. Plebani, F. Cardinale, 2015, Journal of Clinical Immunology.

BAFF-R mutations in Good's syndrome.

V. Lougaris, A. Plebani, M. Baronio, 2014, Clinical immunology.

Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

A. Plebani, C. Pignata, S. Reda, 2021, Journal of Clinical Immunology.

The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)

V. Lougaris, R. Consolini, A. Plebani, 2020, Journal of Clinical Immunology.

Shift from intravenous or 16% subcutaneous replacement therapy to 20% subcutaneous immunoglobulin in patients with primary antibody deficiencies

A. Plebani, F. Cinetto, M. de Carli, 2016, International journal of immunopathology and pharmacology.

Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency

L. Notarangelo, A. Plebani, S. Giliani, 2002, European Journal of Pediatrics.

A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1).

V. Lougaris, A. Plebani, B. Grimbacher, 2019, Clinical immunology.

Clinical and Laboratory Features of 184 Italian Pediatric Patients Affected with Selective IgA Deficiency (SIgAD): a Longitudinal Single-Center Study

V. Lougaris, A. Plebani, R. Badolato, 2019, Journal of Clinical Immunology.

Burden of Skin Disease in Selective IgA Deficiency and Common Variable Immunodeficiency.

V. Lougaris, A. Plebani, G. Gualdi, 2015, Journal of investigational allergology & clinical immunology.

A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency.

V. Lougaris, A. Plebani, Michael Seleman, 2019, The Journal of allergy and clinical immunology.

Autosomal-dominant hyper-IgE syndrome is associated with appearance of infections early in life and/or neonatal rash: Evidence from the Italian cohort of 61 patients with elevated IgE.

L. Dotta, G. Giardino, A. Plebani, 2019, The journal of allergy and clinical immunology. In practice.

Cerebro-reno-digital syndrome in two sibs.

A. Plebani, C. Danesino, A. Tiberti, 1993, American journal of medical genetics.

Mutational Analysis of Human BLyS in Patients with Common Variable Immunodeficiency

V. Lougaris, A. Plebani, B. Grimbacher, 2006, Journal of Clinical Immunology.

Long term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality.

E. Cirillo, V. Lougaris, R. Consolini, 2020, The Journal of allergy and clinical immunology.

IgM and IgD concentrations in the serum and secretions of children with selective IgA deficiency.

L. Notarangelo, A. Plebani, A. Ugazio, 1983, Clinical and experimental immunology.

Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children

A. Plebani, S. Giliani, S. Esposito, 2012, Virology Journal.

In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia

A. Plebani, L. Chessa, M. Magnani, 2017, Molecular and Cellular Biochemistry.

Defective expression of HLA class I and CD1a molecules in boy with Marfan-like phenotype and deep skin ulcers.

L. Notarangelo, A. Plebani, A. Ugazio, 1996, Journal of the American Academy of Dermatology.

Cross-talk between CD40 and CD40L: lessons from primary immune deficiencies

A. Plebani, S. Ferrari, 2002, Current opinion in allergy and clinical immunology.

Innate TLR3 Pathway Involving BAFF Respiratory Mucosa B Cells through an Class Switching by Activating Upper Viral Double-Stranded RNA Triggers Ig

A. Plebani, B. He, Weifeng Xu, 2008 .

HLA-DRB1* and allergy to Parietaria: linkage and association analyses.

P. Matricardi, A. Plebani, M. D’Amato, 1999, Human immunology.

Sensorineural hearing loss in primary antibody deficiency disorders.

V. Lougaris, A. Plebani, P. Nicolai, 2008, The Journal of pediatrics.

Characterization of Ig Gene Somatic Hypermutation in the Absence of Activation-Induced Cytidine Deaminase1

P. Lipsky, A. Plebani, A. Durandy, 2008, The Journal of Immunology.

Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents.

J. Casanova, V. Lougaris, A. Plebani, 2021, The Journal of clinical investigation.

Functional defects of dendritic cells in patients with CD40 deficiency.

L. Notarangelo, A. Plebani, R. Badolato, 2003, Blood.

Functional defects of dendritic cells in CD 40-deficient patients

A. Plebani, W. Vermi, F. Facchetti, 2003 .

Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease.

V. Lougaris, A. Plebani, G. Tabellini, 2015, The Journal of allergy and clinical immunology.

Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease

L. Dotta, G. Giardino, V. Lougaris, 2016, Data in brief.

CpG Drives Human Transitional B Cells to Terminal Differentiation and Production of Natural Antibodies

A. Plebani, E. Giorda, M. Rosado, 2008, The Journal of Immunology.

Clinical, Immunological and Molecular Characteristics of 37 Iranian Patients with X-Linked Agammaglobulinemia

A. Salavati, L. Notarangelo, A. Plebani, 2006, International Archives of Allergy and Immunology.

Henoch-Schönlein syndrome and selective IgA deficiency.

L. Notarangelo, A. Plebani, A. Martini, 1985, Archives of disease in childhood.

Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders

A. Plebani, R. Meschini, L. Chessa, 2016, Journal of the Neurological Sciences.

Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications.

V. Lougaris, A. Plebani, R. Badolato, 2018, Clinical immunology.

X-linked agammaglobulinemia Long-lasting memory-resting and memory-effector CD4+T cells in human

A. Plebani, D. Accapezzato, V. Barnaba, 2013 .

Long-lasting memory-resting and memory-effector CD4+ T cells in human X-linked agammaglobulinemia.

A. Plebani, D. Accapezzato, V. Barnaba, 2002, Blood.

Successful hematopoietic stem cell transplantation for complete CTLA-4 haploinsufficiency due to a de novo monoallelic 2q33.2-2q33.3 deletion.

V. Lougaris, A. Plebani, D. Russo, 2020, Clinical immunology.

Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages

L. Notarangelo, A. Plebani, G. Camerino, 1991, Human Genetics.

Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q

A. Schäffer, A. Plebani, J. Meer, 2006, European Journal of Human Genetics.

Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q

A. Schäffer, A. Plebani, L. Hammarström, 2006, Human Genetics.

Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis.

Anne-Kathrin Kienzler, V. Lougaris, A. Plebani, 2014, The Journal of allergy and clinical immunology.

Reply to Cesaro and Ek et al.: Vaccination after the end of chemotherapy for acute lymphoblastic leukaemia in children

A. Plebani, F. Fioredda, E. Castagnola, 2005 .

An avidin-biotin ELISA for the measurement of serum and secretory IgD.

A. Plebani, A. Ugazio, M. Avanzini, 1984, Journal of immunological methods.

Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome.

G. Giardino, R. Consolini, A. Plebani, 2019, The journal of allergy and clinical immunology. In practice.

Nosocomial Rotavirus Gastroenteritis in pediatric patients: a multi-center prospective cohort study

A. Plebani, F. Ruggeri, F. D. de Benedictis, 2010, BMC infectious diseases.

Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations

A. Plebani, A. Pilotta, L. Notarangelo, 2014, Italian Journal of Pediatrics.

Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children

A. Plebani, S. Giliani, S. Esposito, 2012, Virology Journal.

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.

L. Dotta, G. Giardino, E. Cirillo, 2020, The Journal of allergy and clinical immunology.

The significance of duodenal mucosal atrophy in patients with common variable immunodeficiency: a clinical and histopathologic study.

V. Lougaris, A. Plebani, G. Corazza, 2012, American journal of clinical pathology.

Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X‐linked agammaglobulinaemia patients

A. Plebani, P. Sideras, P. Rossi, 2000, Human mutation.

Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ.

V. Lougaris, A. Plebani, R. Badolato, 2020, Clinical immunology.

T cell activity and cytokine production in X-linked agammaglobulinemia: implications for vaccination strategies.

A. Plebani, M. Eibl, M. Duse, 1997, International archives of allergy and immunology.

Circulating Follicular Helper and Follicular Regulatory T Cells Are Severely Compromised in Human CD40 Deficiency: A Case Report

V. Lougaris, A. Plebani, A. Aiuti, 2018, Front. Immunol..

Beta2 integrins are required for follicular helper T cell differentiation in humans.

V. Lougaris, A. Plebani, G. Fousteri, 2017, Clinical immunology.

Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects

V. Lougaris, A. Plebani, S. Giliani, 2016, Expert review of clinical immunology.

Bruton tyrosine kinase mediates TLR9-dependent human dendritic cell activation.

V. Lougaris, A. Plebani, R. Badolato, 2014, The Journal of allergy and clinical immunology.

E47 Transcription Factor Deficiency

V. Lougaris, A. Plebani, 2020, Encyclopedia of Medical Immunology.

Serum Immunoglobulin Isotypes with Decreased or Absent B Cells, Reduction of

V. Lougaris, A. Plebani, 2019, Encyclopedia of Medical Immunology.

PIK3R1 Deficiency-Associated Agammaglobulinemia

V. Lougaris, A. Plebani, 2019, Encyclopedia of Medical Immunology.

μ Heavy Chain Deficiency

V. Lougaris, A. Plebani, 2019, Encyclopedia of Medical Immunology.

λ5 Deficiency

V. Lougaris, A. Plebani, 2019, Encyclopedia of Medical Immunology.

BLNK Deficiency

V. Lougaris, A. Plebani, 2018, Encyclopedia of Medical Immunology.

Double-blind, placebo-controlled, randomized trial on low-dose azithromycin prophylaxis in patients with primary antibody deficiencies.

V. Lougaris, A. Plebani, F. Cinetto, 2019, The Journal of allergy and clinical immunology.

Igβ deficiency in humans

V. Lougaris, A. Plebani, S. Ferrari, 2008, Current opinion in allergy and clinical immunology.

The Quality of Life of Children and Adolescents with X-Linked Agammaglobulinemia

A. Plebani, G. Parrinello, A. Molinaro, 2009, Journal of Clinical Immunology.

X‐linked agammaglobulinemia, growth hormone deficiency and delay of growth and puberty

A. Plebani, A. Ugazio, M. Duse, 1994, Acta paediatrica.

Selective deficiency of OKT4+ lymphocytes in a child with combined immunodeficiency.

A. Plebani, A. Ugazio, M. Duse, 1983, Birth defects original article series.

Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial

A. Plebani, L. Chessa, R. Micheli, 2014, Orphanet Journal of Rare Diseases.

Western blot technique in the serological evaluation of three LAV/HTLV III-infected Italian families

L. Notarangelo, A. Plebani, J. Chermann, 1986, Infection.

Corrigendum to “Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency” [Clin. Immunol. 110 (2004) 22–29]

A. Plebani, J. Litzman, O. Sanal, 2004 .

Natural Antibodies Terminal Differentiation and Production of CpG Drives Human Transitional B Cells to

A. Plebani, E. Giorda, S. Cascioli, 2013 .

Serum IgG levels and complement activity in hypogammaglobulinaemic patients under substitution therapy.

L. Notarangelo, A. Plebani, A. Ugazio, 1984, Clinical and Experimental Immunology.

CTLA-4 regulates human Natural Killer cell effector functions.

V. Lougaris, A. Plebani, G. Tabellini, 2018, Clinical immunology.

Autosomal Recessive Agammaglobulinemia: The Third Case of Igβ Deficiency Due to a Novel Non-sense Mutation

V. Lougaris, A. Plebani, R. Badolato, 2014, Journal of Clinical Immunology.

Clinical outcome, incidence, and SARS-CoV-2 infection-fatality rates in Italian patients with inborn errors of immunity

G. Giardino, V. Lougaris, A. Plebani, 2021, The Journal of Allergy and Clinical Immunology: In Practice.

Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network

G. Giardino, E. Cirillo, V. Lougaris, 2022, Journal of Clinical Immunology.

The RAC2-PI3K axis regulates human NK cell maturation and function.

V. Lougaris, A. Plebani, G. Tabellini, 2019, Clinical immunology.

Toll-Like Receptor Stimulation Induces Higher TNF-α Secretion in Peripheral Blood Mononuclear Cells from Patients with Hyper IgE Syndrome

A. Plebani, J. Franco, J. Litzman, 2008, International Archives of Allergy and Immunology.

Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations

M. Chiarini, V. Lougaris, A. Plebani, 2021, Journal of Clinical Immunology.

Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations

V. Lougaris, A. Plebani, R. Badolato, 2021, Journal of Clinical Immunology.

Letter to the editor: Humoral immunodeficiencies in Down syndrome: Serum IgG subclass and antibody response to hepatitis B vaccine

A. Plebani, A. Ugazio, M. Avanzini, 2005 .

Humoral immunodeficiencies in Down syndrome: serum IgG subclass and antibody response to hepatitis B vaccine.

A. Plebani, A. Ugazio, M. Avanzini, 1990, American journal of medical genetics. Supplement.

Common Variable Immunodeficiency: Computed Tomography Evaluation of Bronchopulmonary Changes Including Nodular Lesions in 40 Patients. Correlation With Clinical and Immunological Data

V. Lougaris, A. Plebani, R. Maroldi, 2010, Journal of computer assisted tomography.

IgG2 deficiency and intractable epilepsy of childhood.

A. Plebani, A. Ugazio, M. Duse, 1986, Monographs in allergy.

Molecular weight-related antigenicity of peptides contained in cow's milk protein hydrolysates.

A. Plebani, A. Ugazio, A. Albertini, 1992, Pharmacological Research.

IgE antibodies to hydrolysates of cow milk proteins in children with cow milk allergy.

A. Plebani, A. Ugazio, A. Albertini, 1990, Annals of allergy.

Extensive deletion of immunoglobulin heavy chain constant region genes in the absence of recurrent infections: when is IgG subclass deficiency clinically relevant?

A. Plebani, A. Ugazio, A. Bottaro, 1993, Clinical Immunology and Immunopathology.

Two siblings with deficiency of IgA1, IgG2, IgG4 and IgE due to deletion of immunoglobulin heavy chain constant region genes.

A. Plebani, A. Bottaro, A. Soresina, 1993, The Year in immunology.

A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome

V. Lougaris, A. Plebani, A. Šedivá, 2022, Blood.

Profound T‐cell defects in Dubowitz syndrome

V. Lougaris, A. Plebani, P. Calzavara-Pinton, 2014, Pediatric Allergy and Immunology.

Lack of DOCK8 impairs the primary biologic functions of human NK cells and abrogates CCR7 surface expression in a WASP-independent manner.

V. Lougaris, A. Plebani, R. Badolato, 2022, Clinical immunology.

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.

Neil A. Miller, Lu Zhang, S. Kingsmore, 2012, Blood.

Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity.

V. Lougaris, A. Plebani, D. Moratto, 2019, Clinical immunology.

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia

A. Plebani, L. Chessa, R. Micheli, 2015, Neurology: Neuroimmunology & Neuroinflammation.

MULTIPLE RELAPSES OF VISCERAL LEISHMANIASIS IN AN ADOLESCENT WITH IDIOPATHIC CD4+ LYMPHOCYTOPENIA ASSOCIATED WITH NOVEL IMMUNOPHENOTYPIC AND MOLECULAR FEATURES

A. Fischer, U. Dianzani, A. Plebani, 2009, The Pediatric infectious disease journal.

A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly

V. Lougaris, A. Plebani, M. D’Elios, 2021, Cell Death & Differentiation.

Serum IgG subclass concentrations in healthy subjects at different age: Age normal percentile charts

A. Plebani, A. Ugazio, M. Avanzini, 1989, European Journal of Pediatrics.

Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a pre-diversified immunoglobulin repertoire Running title: Circulating splenic marginal zone B cells in human

L. Staudt, A. Rosenwald, J. Casanova, 2004 .

Comparison of the frequency of atopic diseases in children with severe and partial IgA deficiency.

A. Plebani, A. Ugazio, M. Avanzini, 1987, International archives of allergy and applied immunology.

Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.

M. Vihinen, L. Notarangelo, A. Plebani, 2010, Blood.

Temporal viral loads in respiratory and gastrointestinal tract and serum antibody responses during SARS-CoV-2 infection in an Italian pediatric cohort

V. Lougaris, A. Plebani, M. Motta, 2021, Clinical Immunology.

Allele * 1 of HS 1 . 2 Enhancer Associates with Selective IgA Deficiency and IgM Concentration 1

A. Plebani, V. Giambra, D. Frezza, 2009 .

Deficiency and IgM Concentration Associates with Selective IgA

A. Plebani, V. Giambra, R. Cianci, 2009 .

Diagnostic approach of hypogammaglobulinemia in infancy

L. Dotta, V. Lougaris, A. Plebani, 2020, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Different Clinical and Immunological Presentation of Ataxia-Telangiectasia within the Same Family

A. Plebani, A. Plebani, A. Soresina, 2008, Neuropediatrics.

Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia

V. Lougaris, A. Plebani, F. Cardinale, 2007, Genes and Immunity.

Relationship between IgA and IgG subclass deficiencies: a reappraisal.

A. Plebani, A. Ugazio, M. Avanzini, 1986, Monographs in allergy.

Prognostic factors and survival in children with perinatal HIV-1 infection

A. Plebani, G. Zuccotti, N. Principi, 1992, The Lancet.

Gastrointestinal Pathologic Abnormalities in Pediatric- and Adult-Onset Common Variable Immunodeficiency

V. Lougaris, A. Plebani, V. Villanacci, 2015, Digestive Diseases and Sciences.

Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group

V. Lougaris, A. Plebani, G. Driessen, 2018, Journal of Clinical Immunology.

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

L. Notarangelo, J. Walter, V. Lougaris, 2017, Front. Immunol..

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

L. Notarangelo, A. Plebani, R. Geha, 2012, The Journal of Experimental Medicine.

Prevalence and diagnosis of celiac disease in IgA-deficient children.

A. Plebani, A. Ugazio, V. Villanacci, 1996, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome

L. Notarangelo, A. Plebani, S. Giliani, 2004, European Journal of Pediatrics.

Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome.

A. Plebani, G. Merlini, A. Martini, 2008, Arthritis and rheumatism.

Long-Term Clinical Profile of Children With the Low-Penetrance R92Q Mutation of the TNFRSF1A Gene

M. Sormani, A. Plebani, A. Martini, 2011, Arthritis and rheumatism.

Activated Phosphoinositide 3-Kinase δ Syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.

A. Schulz, V. Lougaris, A. Plebani, 2023, Journal of Allergy and Clinical Immunology.

Chapter 13 – Agammaglobulinemia

V. Lougaris, A. Plebani, A. Plebani, 2014 .

Structural and immunologic analysis of gene triplications in the Ig heavy chain constant region locus.

A. Plebani, A. Bottaro, A. Brusco, 1994, Journal of Immunology.