C. Pignata

C. Pignata, L. Delfino, C. Pera, 1995, European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics.

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

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

Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs.

C. Pignata, V. Guzzetta, A. Guarino, 1996, American journal of medical genetics.

Reduced Atherosclerotic Burden in Subjects With Genetically Determined Low Oxidative Stress

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

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.

Nail dystrophy associated with a heterozygous mutation of the nude/SCID human FOXN1 (WHN) gene.

C. Pignata, A. Christiano, J. Frank, 2005, Archives of dermatology.

Brain abscesses in children: an Italian multicentre study

C. Pignata, A. Giannini, S. Esposito, 2017, Epidemiology and Infection.

T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

V. Gallo, G. Giardino, E. Cirillo, 2022, Genetic Syndromes.

Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations

F. Benfenati, A. E. Sousa, G. Giardino, 2021, Journal of Clinical Immunology.

T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features

G. Giardino, E. Cirillo, C. Pignata, 2020, Frontiers in Immunology.

FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches

V. Gallo, G. Giardino, E. Cirillo, 2017, Journal of Clinical Immunology.

Severe combined immunodeficiency—an update

V. Gallo, G. Giardino, E. Cirillo, 2015, Annals of the New York Academy of Sciences.

FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program

V. Gallo, G. Giardino, C. Pignata, 2013, Front. Immunol..

Severe Combined Immunodeficiences: New and Old Scenarios

V. Gallo, G. Giardino, E. Cirillo, 2012, International reviews of immunology.

Ancestral Founder Mutation of the Nude (FOXN1) Gene in Congenital Severe Combined Immunodeficiency Associated with Alopecia in Southern Italy Population

F. Fusco, C. Pignata, M. Ursini, 2004, Annals of human genetics.

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.

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.

Case Report: Severe Rhabdomyolysis and Multiorgan Failure After ChAdOx1 nCoV-19 Vaccination

S. Pittaluga, L. Notarangelo, G. Giardino, 2022, Frontiers in Immunology.

Occupancy of dipeptidyl peptidase IV activates an associated tyrosine kinase and triggers an apoptotic signal in human hepatocarcinoma cells

C. Pignata, N. Pozzi, M. Fiore, 1998, Hepatology.

Precocious puberty in Turner Syndrome: report of a case and review of the literature

C. Pignata, P. Vajro, G. Parenti, 2012, Italian Journal of Pediatrics.

First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases.

Ivan K. Chinn, A. Fischer, C. Pignata, 2011, Blood.

Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task.

G. Giardino, E. Cirillo, C. Pignata, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Novel Findings into AIRE Genetics and Functioning: Clinical Implications

E. Cirillo, C. Pignata, M. Salerno, 2016, Front. Pediatr..

“ANALYSIS OF MICRORNAs AS NOVEL BIOMARKERS IN LYSOSOMAL STORAGE DISEASES” Tutor

C. Pignata, G. Parenti, 2015 .

Recommendations regarding splenectomy in hereditary hemolytic anemias

Maria Domenica Cappellini, Achille Iolascon, Antonella Gambale, 2017, Haematologica.

Clinical, Immunological, and Functional Characterization of Six Patients with Very High IgM Levels

C. Saunders, V. Gallo, G. Giardino, 2020, Journal of clinical medicine.

Abnormal cell-clearance and accumulation of autophagic vesicles in lymphocytes from patients affected with Ataxia-Teleangiectasia.

A. Ballabio, C. Pignata, L. Palamaro, 2017, Clinical immunology.

Epigenetic Alterations in Inborn Errors of Immunity

N. Brunetti‐Pierri, G. Giardino, E. Cirillo, 2022, Journal of clinical medicine.

De novo 13q12.3–q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A‐T like phenotype

G. Giardino, E. Cirillo, C. Pignata, 2012, American journal of medical genetics. Part A.

Combined immunodeficiency phenotype associated with inappropriate spontaneous and activation‐induced apoptosis

C. Pignata, S. Venuta, A. Petrella, 1997, Clinical and experimental immunology.

APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors

C. Pignata, M. Salerno, D. Capalbo, 2013, Front. Immunol..

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation

G. Giardino, C. Pignata, P. Vajro, 2012, International journal of endocrinology.

Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives

C. Pignata, E. Arvat, R. Giordano, 2011, Journal of Endocrinological Investigation.

Atypical features of familial hemophagocytic lymphohistiocytosis.

R. Clementi, C. Pignata, L. Racioppi, 2004, Blood.

The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter.

M. D'urso, C. Pignata, M. Ursini, 2002, Gene.

γ Chain transducing element: a shared pathway between endocrine and immune system.

E. Cirillo, C. Pignata, L. Palamaro, 2011, Cellular immunology.

A lesson for unraveling complex aspects of novel immunodeficiencies from the human equivalent of the nude/SCID phenotype.

C. Pignata, 2002, Journal of hematotherapy & stem cell research.

1-1-2016 Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing

Alessandro, E. Farrow, C. Saunders, 2019 .

Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

A. Smahi, C. Bodemer, A. Munnich, 2014, Human mutation.

A91V perforin variation in healthy subjects and FHLH patients

C. Pignata, M. Miano, M. Ursini, 2006, International journal of immunogenetics.

Direct and Indirect Costs of Immunoglobulin Replacement Therapy in Patients with Common Variable Immunodeficiency (CVID) and X-Linked Agammaglobulinemia (XLA) in Italy

C. Pignata, A. Vacca, C. Agostini, 2018, Clinical Drug Investigation.

Magnetic resonance imaging is an accurate and reliable method to evaluate non‐cystic fibrosis paediatric lung disease

C. Pignata, D. Bruzzese, M. Maglione, 2012, Respirology.

Novel STAT1 gain‐of‐function mutation and suppurative infections

G. Giardino, E. Cirillo, A. Leonardi, 2016, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

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

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

Progressive deficiencies in blood T cells associated with a 10p12-13 interstitial deletion.

C. Pignata, S. Venuta, E. Cosentini, 1996, Clinical immunology and immunopathology.

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 .

A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation

E. Orilieri, G. Cappellano, A. Chiocchetti, 2015, Genes and Immunity.

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..

Two Brothers with Atypical UNC13D-Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement

Massimiliano Valeriani, C. Saunders, G. Giardino, 2017, Front. Immunol..

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

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

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

J. Casanova, G. Giardino, C. Pignata, 2023, The Journal of experimental medicine.

Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

D. Lazarević, C. Pignata, S. Giliani, 2019, Front. Immunol..

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.

Biweekly Hizentra® in Primary Immunodeficiency: a Multicenter, Observational Cohort Study (IBIS)

V. Gallo, C. Pignata, A. Matucci, 2018, Journal of Clinical Immunology.

Clinical phenotype, immunological abnormalities and genomic findings in patients with DiGeorge spectrum phenotype without 22q11.2 deletion.

G. Giardino, E. Cirillo, C. Pignata, 2020, The journal of allergy and clinical immunology. In practice.

Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity

C. Pignata, V. Hwa, L. Metherell, 2021, The Journal of clinical endocrinology and metabolism.

Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children

V. Gallo, E. Cirillo, C. Pignata, 2018, European Journal of Pediatrics.

Clinical and molecular analysis of patients with defects in μ heavy chain gene

Mary Ellen Conley, Lennart Hammarström, C. Pignata, 2002 .

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.

Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature

E. Cirillo, C. Pignata, M. Salerno, 2014, BMC Pediatrics.

High intrafamilial variability in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: A case study

U. Dianzani, C. Pignata, A. Fusco, 2011, Journal of Endocrinological Investigation.

Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome

V. Gallo, G. Giardino, E. Cirillo, 2014, Scandinavian journal of gastroenterology.

Identification of gliadin peptides immunogenic for celiac patients

C. Pignata, 2014 .

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.

Non Invasive Assessment of Lung Disease in Ataxia Telangiectasia by High-Field Magnetic Resonance Imaging

G. Giardino, C. Pignata, M. Salvatore, 2013, Journal of Clinical Immunology.

Phenotypic characterization and outcome of paediatric patients affected with haemophagocytic syndrome of unknown genetic cause

V. Poggi, V. Gallo, G. Giardino, 2013, British journal of haematology.

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

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

Apoptosis as a Mechanism of Peripheral Blood Mononuclear Cell Death after Measles and Varicella-Zoster Virus Infections in Children

C. Pignata, S. Filippo, M. Fiore, 1998, Pediatric Research.

Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

M. C. Savanelli, M. T. Pellecchia, G. Argenziano, 2021, Journal of public health.

Interleukin-12 induces tyrosine phosphorylation and activation of 44-kD mitogen-activated protein kinase in human T cells.

C. Pignata, J. Ritz, J. Sanghera, 1994, Blood.

44-kD mitogen-activated protein kinase in human T cells Interleukin-12 induces tyrosine phosphorylation and activation of

C. Pignata, J. Ritz, L. Cossette, 2011 .

SARS-CoV-2 Infection in the Immunodeficient Host: Necessary and Dispensable Immune Pathways

G. Giardino, E. Cirillo, C. Pignata, 2021, The Journal of Allergy and Clinical Immunology: In Practice.

Rituximab unveils hypogammaglobulinemia and immunodeficiency in children with autoimmune cytopenia.

V. Gallo, C. Pignata, C. Cancrini, 2019, The journal of allergy and clinical immunology. In practice.

Abnormal GH receptor signaling in children with idiopathic short stature.

C. Pignata, M. Ursini, R. Rosenfeld, 2001, The Journal of clinical endocrinology and metabolism.

PhD Thesis "The minimally invasive surgery and regenerative medicine: clinical and experimental aspects"

C. Pignata, 2013 .

The minimally invasive surgery and regenerative medicine : clinical and experimental aspects

C. Pignata, 2013 .

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.

Multisystemic Disease With Involvement of Immune, Endocrine, and Neurologic Systems

C. Pignata, L. Chessa, M. Salerno, 1997, Journal of child neurology.

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.

High-content cytometry and transcriptomic biomarker profiling of human B-cell activation.

C. Pignata, C. Klein, I. Caragol, 2014, The Journal of allergy and clinical immunology.

Functional Interaction of Common γ-Chain and Growth Hormone Receptor Signaling Apparatus1

C. Pignata, S. Amorosi, F. Candotti, 2006, The Journal of Immunology.

Immune tolerance breakdown in inborn errors of immunity: Paving the way to novel therapeutic approaches.

G. Giardino, V. Lougaris, C. Pignata, 2023, Clinical immunology.

Neutralizing Anti-Cytokine Autoantibodies Against Interferon-α in Immunodysregulation Polyendocrinopathy Enteropathy X-Linked

C. Pignata, T. Torgerson, E. Allenspach, 2018, Front. Immunol..

Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature.

C. Pignata, C. Cancrini, A. Ugazio, 2013, Journal of biological regulators and homeostatic agents.

Subcutaneous Immunoglobulin Twenty Percent Every Two Weeks in Pediatric Patients with Primary Immunodeficiencies: Subcohort Analysis of the IBIS Study.

V. Gallo, C. Pignata, A. Matucci, 2019, Pediatric allergy, immunology, and pulmonology.

81 DEPICIENT INTERLEUKIN(IL)-2 PRODUCTION IN CHILDREN WITH CHRONIC B HEPATITIS (CBH)

C. Pignata, V. Nuzzo, G. Monaco, 1988, Pediatric Research.

Biweekly Hizentra® in Primary Immunodeficiency: a Multicenter, Observational Cohort Study (IBIS)

V. Gallo, C. Pignata, A. Matucci, 2018, 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.

The R156H variation in IL-12R beta 1 is not a mutation

G. Giardino, C. Pignata, A. Fusco, 2013 .

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.

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts

E. Cirillo, C. Pignata, P. Soler-Palacín, 2023, Cancer medicine.

Chronic unexplained liver disease in children with primary immunodeficiency syndromes.

C. Pignata, A. Vegnente, R. Iorio, 1998, Journal of clinical gastroenterology.

Immunodeficiency diagnosis: a Mondrian or Pollock scenario?

G. Giardino, C. Pignata, 2011, Blood.

Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation.

A. Masci, C. Pignata, L. Racioppi, 2001, Blood.

Defective function of Fas in patients with type 1 diabetes associated with other autoimmune diseases.

F. Cadario, F. Cerutti, U. Dianzani, 2001, Diabetes.

Hyper IgM syndrome presenting as chronic suppurative lung disease

G. Giardino, C. Pignata, L. Palamaro, 2012, Italian Journal of Pediatrics.

Non Invasive Assessment of Lung Disease in Ataxia Telangiectasia by High-Field Magnetic Resonance Imaging

G. Giardino, C. Pignata, M. Salvatore, 2013, Journal of Clinical Immunology.

FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus

C. Pignata, S. Amorosi, M. D'armiento, 2008, Clinical genetics.

In Ataxia-Telangiectasia, Oral Betamethasone Administration Ameliorates Lymphocytes Functionality through Modulation of the IL-7/IL-7Rα Axis Paralleling the Neurological Behavior: A Comparative Report of Two Cases

V. Gallo, G. Giardino, E. Cirillo, 2020, Immunological investigations.

Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia‐telangiectasia: a multicenter observer‐blind study

E. Cirillo, C. Pignata, R. Micheli, 2018, European journal of neurology.

Severe, protracted intestinal cryptosporidiosis associated with interferon gamma deficiency: pediatric case report.

C. Pignata, F. Urbani, A. Guarino, 1996, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Non-autoimmune subclinical hypothyroidism due to a mutation in TSH receptor: report on two brothers

C. Pignata, P. Agretti, M. Tonacchera, 2013, Italian Journal of Pediatrics.

FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches

V. Gallo, G. Giardino, E. Cirillo, 2017, Journal of Clinical Immunology.

Update on early cardiovascular and metabolic risk factors in children and adolescents affected with growth hormone deficiency.

C. Pignata, P. Vajro, G. Parenti, 2012, Minerva endocrinologica.

FOXN1 mutation abrogates prenatal T-cell development in humans

C. Pignata, L. Racioppi, M. Gorrese, 2011, Journal of Medical Genetics.

Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.

E. Farrow, C. Saunders, I. Thiffault, 2016, The Journal of allergy and clinical immunology.

Respiratory Manifestations in Primary Immunodeficiencies: Findings From a Pediatric and Adult Cohort.

G. Giardino, E. Cirillo, C. Pignata, 2021, Archivos de bronconeumologia.

CD4+ T Cell Defects in a Mulibrey Patient With Specific TRIM37 Mutations

G. Giardino, E. Cirillo, C. Pignata, 2020, Frontiers in Immunology.

Thymic Stromal Alterations and Genetic Disorders of Immune System

C. Pignata, R. D’Assante, A. Sousa, 2015, Front. Immunol..

The Evolutionary Scenario of Pediatric Unclassified Primary Antibody Deficiency to Adulthood

G. Giardino, R. Consolini, C. Pignata, 2023, Journal of clinical medicine.

Altered regulatory mechanisms governing cell survival in children affected with clustering of autoimmune disorders

U. Dianzani, G. Giardino, C. Pignata, 2012, Italian Journal of Pediatrics.

Rare solid tumors in a patient with Wiskott–Aldrich syndrome after hematopoietic stem cell transplantation: case report and review of literature

G. Giardino, E. Cirillo, C. Pignata, 2023, Frontiers in Immunology.

Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job’s syndrome

L. Dotta, G. Giardino, E. Cirillo, 2023, Allergy, Asthma & Clinical Immunology.

Posterior reversible encephalopathy syndrome in a child during an accelerated phase of a severe APECED phenotype due to an uncommon mutation of AIRE

C. Pignata, C. Mazza, M. Salerno, 2008, Clinical endocrinology.

New strategies for the treatment of lysosomal storage diseases (review).

C. Pignata, P. Vajro, G. Parenti, 2013, International journal of molecular medicine.

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.

A. Fischer, E. Cirillo, A. Plebani, 2011, Blood.

A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.

E. Cirillo, R. Badolato, C. Pignata, 2023, Journal of clinical immunology.

Brain alteration in a Nude/SCID fetus carrying FOXN1 homozygous mutation

C. Pignata, A. Fusco, S. Amorosi, 2010, Journal of the Neurological Sciences.

COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report

G. Giardino, C. Pignata, J. Puck, 2024, Journal of clinical immunology.