List of works - Emilia Cirillo

A Bronchovascular Anomaly in a Patient With 22q11.2 Deletion Syndrome.

scientific article published on January 2016

Altered signaling through IL-12 receptor in children with very high serum IgE levels.

scientific article published on 21 July 2010

B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand.

scientific article published on 22 August 2015

Chronic granulomatous disease with gastrointestinal presentation: diagnostic pitfalls and novel ultrastructural findings

scientific article published on 01 January 2012

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

scientific article published on 20 March 2014

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

scientific article

De novo 13q12.3-q14.11 deletion involvingBRCA2gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype

article

DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus

scientific article

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

scientific article published on 7 November 2016

Different degrees of NADPH oxidase 2 regulation and in vivo platelet activation: lesson from chronic granulomatous disease

scientific article

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

scientific article published on 18 December 2013

Genetic basis of altered central tolerance and autoimmune diseases: a lesson from AIRE mutations

scientific article published on October 2012

In ataxia-teleangiectasia betamethasone response is inversely correlated to cerebellar atrophy and directly to antioxidative capacity

scientific article published on June 2009

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

scientific article

Intergenerational anticipation of disease onset in people with multiple autoimmune syndrome

scientific article published on 17 August 2011

Novel Findings into AIRE Genetics and Functioning: Clinical Implications

scientific article

Novel STAT1 gain-of-function mutation and suppurative infections.

scientific article

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

scientific article published on 29 June 2013

Reduced Atherosclerotic Burden in Subjects With Genetically Determined Low Oxidative Stress

article by Francesco Violi et al published February 2013 in Arteriosclerosis, Thrombosis, and Vascular Biology

SCID-like phenotype associated with an inhibitory autoreactive immunoglobulin

scientific article published on 01 January 2012

Severe combined immunodeficiences: new and old scenarios

scientific article published on February 2012

Severe combined immunodeficiency--an update.

scientific article published on 31 July 2015

Unbalanced Immune System: Immunodeficiencies and Autoimmunity

scientific article

Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies.

scientific article published on 16 March 2015

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

scientific article

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

scientific article published on 15 March 2011

List of works by Emilia Cirillo

A Bronchovascular Anomaly in a Patient With 22q11.2 Deletion Syndrome.

Altered signaling through IL-12 receptor in children with very high serum IgE levels.

B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand.

Chronic granulomatous disease with gastrointestinal presentation: diagnostic pitfalls and novel ultrastructural findings

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

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

De novo 13q12.3-q14.11 deletion involvingBRCA2gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype

DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

Different degrees of NADPH oxidase 2 regulation and in vivo platelet activation: lesson from chronic granulomatous disease

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

Genetic basis of altered central tolerance and autoimmune diseases: a lesson from AIRE mutations

In ataxia-teleangiectasia betamethasone response is inversely correlated to cerebellar atrophy and directly to antioxidative capacity

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

Intergenerational anticipation of disease onset in people with multiple autoimmune syndrome

Novel Findings into AIRE Genetics and Functioning: Clinical Implications

Novel STAT1 gain-of-function mutation and suppurative infections.

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

Reduced Atherosclerotic Burden in Subjects With Genetically Determined Low Oxidative Stress

SCID-like phenotype associated with an inhibitory autoreactive immunoglobulin

Severe combined immunodeficiences: new and old scenarios

Severe combined immunodeficiency--an update.

Unbalanced Immune System: Immunodeficiencies and Autoimmunity

Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies.

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

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