Lista de obras -

A 5th type of hypersensitivity reaction: does incidental recruitment of autoreactive effector memory T-cells in response to minute amounts of PAMPs or DAMPs, underlie inflammatory episodes in the seronegative arthropathies and acute anterior uveitis

artículo científico publicado en 2009

A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy

scientific article published on 06 July 2018

A cell-based functional assay that accurately links genotype to phenotype in Familial HLH

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

artículo científico publicado en 2022

A novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiency.

artículo científico publicado en 2014

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

scientific article published on 01 June 2018

ASCIA-P65: HAEMATOPOIETIC STEM CELL TRANSPLANTATION FOR PRIMARY IMMUNODEFICIENCY SYNDROMES, A FIVE YEAR SINGLE CENTRE EXPERIENCE

Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

scientific article published on 01 February 2020

Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation, function and EBV immunity.

artículo científico publicado en 2018

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells

scientific article published on 06 February 2019

Allergy to fruit seeds presenting with anaphylaxis

artículo científico publicado en 2011

Anaphylaxis to apple and orange seed

artículo científico publicado en 2011

CGRA5: IMMUNODEFICIENCY WITH RING CHROMOSOME 21

COVID-19 in children. II: Pathogenesis, disease spectrum and management

COVID-19 in children: I. Epidemiology, prevention and indirect impacts

Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant.

artículo científico publicado en 2015

Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia

artículo científico publicado en 2018

Combined Immunodeficiency with Ring Chromosome 21.

artículo científico publicado en 2018

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

artículo científico publicado en 2015

Correction to: Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia

artículo científico publicado en 2018

Dedicator of cytokinesis 8-deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.

artículo científico publicado en 2016

Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity

scientific article published on 18 September 2019

Diagnosis and management of severe combined immunodeficiency in Australia and New Zealand

artículo científico publicado en 2020

Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype

artículo científico publicado en 2019

Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity

artículo científico publicado en 2015

Fulminant subacute sclerosing panencephalitis: Not only a disease of the past

artículo científico publicado en 2018

Functional STAT3 deficiency compromises the generation of human T follicular helper cells.

artículo científico publicado en 2012

Germline-activating mutations in PIK3CD compromise B cell development and function

artículo científico publicado en 2018

Getting to the bones of the matter

scientific article published on 13 October 2010

Haematopoietic stem cell transplantation for primary immunodeficiency syndromes: A 5-year single-centre experience.

artículo científico publicado en 2017

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients

scientific article published on 25 April 2019

Heterozygous <i>OAS1</i> gain-of-function variants cause an autoinflammatory immunodeficiency

artículo científico publicado en 2021

IL-27 Directly Enhances Germinal Center B Cell Activity and Potentiates Lupus in Sanroque Mice

artículo científico publicado en 2016

Infliximab Reverses Symptoms and May Protect from Developing Chronic Restrictive Ophthalmopathy in Children with Familial Orbital Myositis: A Case Report

Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency

Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases.

artículo científico publicado en 2011

Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D.

artículo científico publicado en 2017

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

artículo científico publicado en 2016

Molecular Analysis of Goodpasture's Disease Following Hematopoietic Stem Cell Transplant in a Pediatric Patient, Recalls the Conformeropathy of Wild-Type Anti-GBM Disease

scientific article published on 14 November 2019

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

artículo científico publicado en 2015

Neonatal Cytomegalovirus Palatal Ulceration and Bocavirus Pneumonitis Associated With a Defect of Lymphocyte Cytotoxicity Caused by Mutations in UNC13D.

artículo científico publicado en 2018

Neonatal Sweet syndrome: a potential marker of serious systemic illness.

artículo científico publicado en 2012

Recurrent infection in children: when and how to investigate for primary immunodeficiency?

artículo científico publicado en 2011

Refractory otitis media: an unusual presentation of childhood granulomatosis with polyangiitis

artículo científico publicado en 2013

SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression

artículo científico publicado en 2021

SARS-CoV-2 in children: spectrum of disease, transmission and immunopathological underpinnings

artículo científico publicado en 2020

STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function

artículo científico publicado en 2015

Salicylate elimination diets in children: is food restriction supported by the evidence?

artículo científico

Salicylate elimination diets in children: is food restriction supported by the evidence?

artículo científico publicado en 2013

Severe COVID‐19 represents an undiagnosed primary immunodeficiency in a high proportion of infected individuals

Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency

scientific article published on 08 December 2020

The Clinical Immunogenomics Research Consortium Australasia (CIRCA): a Distributed Network Model for Genomic Healthcare Delivery

artículo científico publicado en 2020

The FOXP3 full-length isoform controls the lineage-stability of CD4+FOXP3+ regulatory T cells

The FOXP3Δ2 isoform supports Treg cell development and protects against severe IPEX syndrome

artículo científico publicado en 2019

The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat–Wilson Syndrome ⬇️

journal article from 'International Journal of Molecular Sciences' published in 2021

The use of Traditional Chinese Medicines to treat SARS-CoV-2 may cause more harm than good

scientific article published on 03 April 2020

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

artículo científico publicado en 2016

Lista de obras de

A 5th type of hypersensitivity reaction: does incidental recruitment of autoreactive effector memory T-cells in response to minute amounts of PAMPs or DAMPs, underlie inflammatory episodes in the seronegative arthropathies and acute anterior uveitis

A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy

A cell-based functional assay that accurately links genotype to phenotype in Familial HLH

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

A novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiency.

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

ASCIA-P65: HAEMATOPOIETIC STEM CELL TRANSPLANTATION FOR PRIMARY IMMUNODEFICIENCY SYNDROMES, A FIVE YEAR SINGLE CENTRE EXPERIENCE

Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation, function and EBV immunity.

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells

Allergy to fruit seeds presenting with anaphylaxis

Anaphylaxis to apple and orange seed

CGRA5: IMMUNODEFICIENCY WITH RING CHROMOSOME 21

COVID-19 in children. II: Pathogenesis, disease spectrum and management

COVID-19 in children: I. Epidemiology, prevention and indirect impacts

Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant.

Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia

Combined Immunodeficiency with Ring Chromosome 21.

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Correction to: Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia

Dedicator of cytokinesis 8-deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.

Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity

Diagnosis and management of severe combined immunodeficiency in Australia and New Zealand

Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype

Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity

Fulminant subacute sclerosing panencephalitis: Not only a disease of the past

Functional STAT3 deficiency compromises the generation of human T follicular helper cells.

Germline-activating mutations in PIK3CD compromise B cell development and function

Getting to the bones of the matter

Haematopoietic stem cell transplantation for primary immunodeficiency syndromes: A 5-year single-centre experience.

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients

Heterozygous <i>OAS1</i> gain-of-function variants cause an autoinflammatory immunodeficiency

IL-27 Directly Enhances Germinal Center B Cell Activity and Potentiates Lupus in Sanroque Mice

Infliximab Reverses Symptoms and May Protect from Developing Chronic Restrictive Ophthalmopathy in Children with Familial Orbital Myositis: A Case Report

Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency

Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases.

Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D.

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

Molecular Analysis of Goodpasture's Disease Following Hematopoietic Stem Cell Transplant in a Pediatric Patient, Recalls the Conformeropathy of Wild-Type Anti-GBM Disease

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

Neonatal Cytomegalovirus Palatal Ulceration and Bocavirus Pneumonitis Associated With a Defect of Lymphocyte Cytotoxicity Caused by Mutations in UNC13D.

Neonatal Sweet syndrome: a potential marker of serious systemic illness.

Recurrent infection in children: when and how to investigate for primary immunodeficiency?

Refractory otitis media: an unusual presentation of childhood granulomatosis with polyangiitis

SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression

SARS-CoV-2 in children: spectrum of disease, transmission and immunopathological underpinnings

STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function

Salicylate elimination diets in children: is food restriction supported by the evidence?

Salicylate elimination diets in children: is food restriction supported by the evidence?

Severe COVID‐19 represents an undiagnosed primary immunodeficiency in a high proportion of infected individuals

Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency

The Clinical Immunogenomics Research Consortium Australasia (CIRCA): a Distributed Network Model for Genomic Healthcare Delivery

The FOXP3 full-length isoform controls the lineage-stability of CD4+FOXP3+ regulatory T cells

The FOXP3Δ2 isoform supports Treg cell development and protects against severe IPEX syndrome

The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat–Wilson Syndrome ⬇️

The use of Traditional Chinese Medicines to treat SARS-CoV-2 may cause more harm than good

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.