Lista de obras - Claudio Pignata - Dominio Público Uruguay

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

artículo científico publicado en 2016

A case of Incontinentia Pigmenti associated with congenital absence of portal vein system and nodular regenerative hyperplasia

artículo científico publicado en 2018

A case of galactosemia misdiagnosed as cow's milk intolerance

artículo científico publicado en 2012

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

artículo científico publicado en 2002

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

artículo científico publicado en 2015

A prospective study on children with initial diagnosis of transient hypogammaglobulinemia of infancy: results from the Italian Primary Immunodeficiency Network.

artículo científico publicado en 2008

A solid-phase radioimmunoassay for IgG gliadin antibodies using 125I-labelled staphylococcal protein A

scientific article published on 01 October 1983

A91V perforin variation in healthy subjects and FHLH patients

artículo científico publicado en 2006

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

artículo científico publicado en 2013

Abnormal GH receptor signaling in children with idiopathic short stature

artículo científico publicado en 2001

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

artículo científico publicado en 2016

Abnormal pattern of distribution of IgG subclasses in children with chronic hepatitis B virus infection

artículo científico publicado en 1991

Acute adrenal failure as the presenting feature of primary antiphospholipid syndrome in a child

artículo científico publicado en 2012

Allogeneic bone marrow transplantation restores IGF-I production and linear growth in a gamma-SCID patient with abnormal growth hormone receptor signaling

artículo científico publicado en 2004

Alterations of the autoimmune regulator transcription factor and failure of central tolerance: APECED as a model

artículo científico

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population

artículo científico publicado en 2004

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

artículo científico publicado en 2013

Apoptosis as a mechanism of peripheral blood mononuclear cell death after measles and varicella-zoster virus infections in children

artículo científico publicado en 1998

Assessment of Chest High-Field Magnetic Resonance Imaging in Children and Young Adults With Noncystic Fibrosis Chronic Lung Disease

artículo científico publicado en 2009

Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness

artículo científico publicado en 2002

Atypical features of familial hemophagocytic lymphohistiocytosis

artículo científico publicado en 2004

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation

artículo científico publicado en 2012

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis.

artículo científico publicado en 2012

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

artículo científico publicado en 2018

Bone health in children with long-term idiopathic subclinical hypothyroidism.

artículo científico publicado en 2012

Brain abscesses in children: an Italian multicentre study.

artículo científico publicado en 2017

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

artículo científico publicado en 2010

Brain migration disorder and T-cell activation deficiency associated with abnormal signaling through TCR/CD3 complex and hyperactivity of Fyn tyrosine kinase

artículo científico publicado en 2000

Chlorination in a wastewater treatment plant: acute toxicity effects of the effluent and of the recipient water body.

artículo científico publicado en 2011

Chronic diarrhea and failure to thrive in an infant with Campylobacter jejuni

scientific article published on 01 November 1984

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

artículo científico publicado en 2012

Chronic unexplained liver disease in children with primary immunodeficiency syndromes.

artículo científico publicado en 1998

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2002

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

artículo científico publicado en 2014

Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study

artículo científico publicado en 2007

Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Clinical quiz. Crohn's disease

artículo científico publicado en 2000

Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study

artículo científico publicado en 2002

Clustering of distinct autoimmune diseases associated with functional abnormalities of T cell survival in children

artículo científico publicado en 2000

Colostral T lymphocytes detected by intracytoplasmic and membrane markers

artículo científico publicado en 1982

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

artículo científico publicado en 1997

Cutaneous Manifestations as Presenting Sign of Autoimmune Lymphoproliferative Syndrome in Childhood

artículo científico publicado en 2005

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

artículo científico publicado en 2014

DNA typing of DQ and DR alleles in IgA-deficient subjects

artículo científico publicado en 1995

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

Defective activation of mitogen-activated protein kinase after allogeneic bone marrow transplantation

scientific article published on 01 September 1996

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

artículo científico publicado en 2001

Defective interleukin-2 production in children with chronic hepatitis B: role of adherent cells

artículo científico publicado en 1997

Defective surface expression of attractin on T cells in patients with common variable immunodeficiency (CVID)

artículo científico publicado en 2001

DiGeorge anomaly associated with 10p deletion

artículo científico publicado en 1991

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

artículo científico publicado en 2017

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

scientific article published on 01 October 2018

Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans?

scholarly article by Lorenzo Loffredo published in April 2013

Effect of prednisone on DR-positive T cells in children with chronic active hepatitis B

artículo científico publicado en 1989

Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia

artículo científico publicado en 2010

Exposing the human nude phenotype

artículo científico publicado en 1999

FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches

artículo científico publicado en 2017

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

artículo científico publicado en 2008

FOXN1 in organ development and human diseases

artículo científico

FOXN1 mutation abrogates prenatal T-cell development in humans

article

FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program

artículo científico

Fc gamma RIIIA-mediated signaling involves src-family lck in human natural killer cells.

artículo científico publicado en 1993

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

artículo científico publicado en 2010

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

scientific article published on 29 September 2018

From murine to human nude/SCID: the thymus, T-cell development and the missing link

artículo científico publicado en 2012

Functional interaction of common gamma-chain and growth hormone receptor signaling apparatus

artículo científico publicado en 2006

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

artículo científico publicado en 2013

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

artículo científico

Gliadin antibody levels in screening tests for coeliac disease.

artículo científico publicado en 1984

Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

Human FOXN1-deficiency is associated with αβ double-negative and FoxP3+ T-cell expansions that are distinctly modulated upon thymic transplantation

artículo científico publicado en 2012

Human clinical phenotype associated with FOXN1 mutations.

scientific article published on January 2009

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

artículo científico publicado en 2001

Human skin-derived keratinocytes and fibroblasts co-cultured on 3D poly ε-caprolactone scaffold support in vitro HSC differentiation into T-lineage committed cells.

artículo científico publicado en 2013

Hyper IgM syndrome presenting as chronic suppurative lung disease

artículo científico publicado en 2012

Hypertransaminasemia and fatal lung disease: a case report

artículo científico publicado en 2013

Immunodeficiency diagnosis: a Mondrian or Pollock scenario? ⬇️

artículo científico publicado el 24 de noviembre de 2011

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

artículo científico publicado en 2019

Immunoregulatory T subsets in chronic active viral hepatitis: characterization by monoclonal antibodies

scientific article published on 01 May 1983

Immunoregulatory functional abnormalities in children affected by HBsAg-positive chronic active hepatitis: role of prostaglandins in T-mediated suppression.

artículo científico publicado en 1986

Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations

artículo científico publicado en 2017

Impaired platelet activation in patients with hereditary deficiency of p47phox

artículo científico publicado en 2016

Impaired suppressor activity in children affected by coeliac disease

artículo científico publicado en 1985

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

artículo científico publicado en 2009

In this issue: FOX genes and the immune response

artículo científico publicado en 2014

Increased CD5+CD19+ B lymphocytes at the onset of type 1 diabetes in children

scientific article published on 01 December 1997

Increased circulating Ia-bearing T cells in HBsAg-positive chronic active hepatitis

artículo científico publicado en 1982

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease

artículo científico

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

artículo científico publicado en 2014

Intergenerational anticipation of disease onset in people with multiple autoimmune syndrome

scientific article published on 17 August 2011

Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels

artículo científico publicado en 2012

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

artículo científico publicado en 1994

Jejunal bacterial overgrowth and intestinal permeability in children with immunodeficiency syndromes

artículo científico publicado en 1990

Long-term effects of growth hormone (GH) replacement therapy on hematopoiesis in a large cohort of children with GH deficiency

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Molecular evidence for a thymus-independent partial T cell development in a FOXN1-/- athymic human fetus

artículo científico publicado en 2013

Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder

artículo científico publicado en 2000

Multisystemic disease with involvement of immune, endocrine, and neurologic systems

artículo científico publicado en 1997

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

artículo científico publicado en 2010

NADPH Oxidase Deficiency: A Multisystem Approach

artículo científico publicado en 2017

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

scientific article published on 01 May 2005

Networking Between γc and GH-R Signaling in the Control of Cell Growth

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Non invasive assessment of lung disease in ataxia telangiectasia by high-field magnetic resonance imaging.

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations

artículo científico publicado en 2012

Novel Findings into AIRE Genetics and Functioning: Clinical Implications

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Nutritional Status in Agammaglobulinemia: An Italian Multicenter Study

article

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

artículo científico publicado en 1998

Otolaryngological features in a cohort of patients affected with 22q11.2 deletion syndrome: A monocentric survey

scientific article published on 12 September 2018

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

artículo científico publicado en 2013

Phosphorylation of src Family lck Tyrosine Kinase Following Interleukin-12 Activation of Human Natural Killer Cells

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 1996

Prolonged Q-T interval syndrome presenting as idiopathic epilepsy

artículo científico publicado en 1983

Recommendations regarding splenectomy in hereditary hemolytic anemias.

artículo científico publicado en 2017

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

Role of the common γ chain in cell cycle progression of human malignant cell lines

artículo científico publicado en 2012

SCID-like phenotype associated with an inhibitory autoreactive immunoglobulin

artículo científico publicado en 2012

Search for poliovirus long-term excretors among patients affected by agammaglobulinemia

artículo científico publicado en 2004

Severe combined immunodeficiences: new and old scenarios

artículo científico publicado en 2012

Severe combined immunodeficiency--an update.

artículo científico

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

scientific article published on 01 May 1996

Simultaneous peripubertal onset of multireactive autoimmune diseases with an unusual long-lasting remission of type 1 diabetes mellitus

artículo científico publicado en 2000

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

artículo científico publicado en 2012

Steroid-induced improvement of neurological signs in ataxia-telangiectasia patients

artículo científico publicado en 2008

T cell activation deficiency associated with an aberrant pattern of protein tyrosine phosphorylation after CD3 perturbation in Down's syndrome

artículo científico publicado en 1998

T cell immunodeficiency in a patient with 10p deletion syndrome

artículo científico publicado en 1989

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

artículo científico publicado en 2015

The R156H variation in IL-12Rβ1 is not a mutation.

artículo científico publicado en 2013

The cellular amount of the common gamma-chain influences spontaneous or induced cell proliferation

artículo científico publicado en 2009

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

artículo científico publicado en 2002

Therapeutic options in pediatric non alcoholic fatty liver disease: current status and future directions

artículo científico publicado en 2012

Thymic stromal alterations and genetic disorders of immune system

artículo científico publicado en 2015

Treatment of children with chronic viral hepatitis: what is available and what is in store

artículo científico

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

artículo científico publicado en 2017

Unbalanced Immune System: Immunodeficiencies and Autoimmunity

artículo científico publicado en 2016

Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies.

artículo científico

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Lista de obras de Claudio Pignata

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

A case of Incontinentia Pigmenti associated with congenital absence of portal vein system and nodular regenerative hyperplasia

A case of galactosemia misdiagnosed as cow's milk intolerance

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

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

A prospective study on children with initial diagnosis of transient hypogammaglobulinemia of infancy: results from the Italian Primary Immunodeficiency Network.

A solid-phase radioimmunoassay for IgG gliadin antibodies using 125I-labelled staphylococcal protein A

A91V perforin variation in healthy subjects and FHLH patients

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

Abnormal GH receptor signaling in children with idiopathic short stature

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

Abnormal pattern of distribution of IgG subclasses in children with chronic hepatitis B virus infection

Acute adrenal failure as the presenting feature of primary antiphospholipid syndrome in a child

Allogeneic bone marrow transplantation restores IGF-I production and linear growth in a gamma-SCID patient with abnormal growth hormone receptor signaling

Alterations of the autoimmune regulator transcription factor and failure of central tolerance: APECED as a model

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

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

Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population

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

Apoptosis as a mechanism of peripheral blood mononuclear cell death after measles and varicella-zoster virus infections in children

Assessment of Chest High-Field Magnetic Resonance Imaging in Children and Young Adults With Noncystic Fibrosis Chronic Lung Disease

Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness

Atypical features of familial hemophagocytic lymphohistiocytosis

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective

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

Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis.

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

Bone health in children with long-term idiopathic subclinical hypothyroidism.

Brain abscesses in children: an Italian multicentre study.

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

Brain migration disorder and T-cell activation deficiency associated with abnormal signaling through TCR/CD3 complex and hyperactivity of Fyn tyrosine kinase

Chlorination in a wastewater treatment plant: acute toxicity effects of the effluent and of the recipient water body.

Chronic diarrhea and failure to thrive in an infant with Campylobacter jejuni

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

Chronic unexplained liver disease in children with primary immunodeficiency syndromes.

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation

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

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

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

Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study

Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

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

Clinical quiz. Crohn's disease

Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study

Clustering of distinct autoimmune diseases associated with functional abnormalities of T cell survival in children

Colostral T lymphocytes detected by intracytoplasmic and membrane markers

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

Cutaneous Manifestations as Presenting Sign of Autoimmune Lymphoproliferative Syndrome in Childhood

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

DNA typing of DQ and DR alleles in IgA-deficient subjects

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

Defective activation of mitogen-activated protein kinase after allogeneic bone marrow transplantation

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

Defective interleukin-2 production in children with chronic hepatitis B: role of adherent cells

Defective surface expression of attractin on T cells in patients with common variable immunodeficiency (CVID)

DiGeorge anomaly associated with 10p deletion

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

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

Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans?

Effect of prednisone on DR-positive T cells in children with chronic active hepatitis B

Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia

Exposing the human nude phenotype

FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches

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

FOXN1 in organ development and human diseases

FOXN1 mutation abrogates prenatal T-cell development in humans

FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program

Fc gamma RIIIA-mediated signaling involves src-family lck in human natural killer cells.

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

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

From murine to human nude/SCID: the thymus, T-cell development and the missing link

Functional interaction of common gamma-chain and growth hormone receptor signaling apparatus

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

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

Gliadin antibody levels in screening tests for coeliac disease.

Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study