Lista de obras -

A Novel Targeted Screening Tool for Hypogammaglobulinemia: Measurement of Serum Immunoglobulin (IgG, IgM, IgA) Levels from Dried Blood Spots (Ig-DBS Assay).

artículo científico publicado en 2015

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency

artículo científico publicado en 2010

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy

artículo científico publicado en 2013

Accumulation of peripheral autoreactive B cells in the absence of functional human regulatory T cells.

artículo científico publicado en 2012

Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome

artículo científico publicado en 2015

Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor

artículo científico publicado en 2006

Astrovirus encephalitis in boy with X-linked agammaglobulinemia

artículo científico publicado en 2010

Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents

artículo científico publicado en 2009

Autoantibodies in scurfy mice and IPEX patients recognize keratin 14.

artículo científico publicado en 2010

CD4+FOXP3+ regulatory T cells confer long-term regulation of factor VIII-specific immune responses in plasmid-mediated gene therapy-treated hemophilia mice

artículo científico publicado en 2009

Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT

artículo científico publicado en 2019

Class switch recombination defects: impact on b cell maturation and antibody responses

artículo científico publicado en 2020

Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.

artículo científico publicado en 2013

Common variable immunodeficiency as the initial presentation of dyskeratosis congenita

artículo científico publicado en 2013

Comèl-Netherton syndrome defined as primary immunodeficiency

artículo científico publicado en 2009

Correction to: Infections in Infants with SCID: Isolation, Infection Screening and Prophylaxis in PIDTC Centers

artículo científico publicado en 2020

Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT

scientific article published on 29 August 2020

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 Conten

artículo científico publicado en 2017

DOCK8 regulates fitness and function of regulatory T cells through modulation of IL-2 signaling

artículo científico publicado en 2017

Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.

artículo científico publicado en 2013

Diagnosis and evaluation of primary panhypogammaglobulinemia: A molecular and genetic challenge ⬇️

artículo científico publicado el 1 de junio de 2013

Early-onset stroke and vasculopathy associated with mutations in ADA2

artículo científico publicado en 2014

Eczematous dermatitis in primary immunodeficiencies: A review of cutaneous clues to diagnosis

scientific article published on 30 December 2019

Effect of rituximab on human in vivo antibody immune responses ⬇️

artículo científico publicado el 9 de septiembre de 2011

Excellent Outcomes Following Hematopoietic Cell Transplantation for Wiskott-Aldrich Syndrome: A PIDTC Report

artículo científico publicado en 2020

FOXP3 acts as a rheostat of the immune response

artículo científico publicado en 2005

Gene editing to induce FOXP3 expression in human CD4+ T cells leads to a stable regulatory phenotype and function

artículo científico publicado en 2020

HLA-Haploidentical Hematopoietic Cell Transplantation for Treatment of Non-Malignant Diseases Using Nonmyeloablative Conditioning and Post-Transplant Cyclophosphamide

artículo científico publicado en 2020

Health-related quality of life in patients with primary immunodeficiency disease

artículo científico publicado en 2015

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey

artículo científico publicado en 2020

Hematopoietic stem cell transplantation for CTLA4 deficiency

article

Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation

artículo científico publicado en 2011

IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.

artículo científico publicado en 2007

Immune dysregulation in primary immunodeficiency disorders

artículo científico publicado en 2008

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression

artículo científico publicado en 2007

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: a model of immune dysregulation

artículo científico publicado en 2002

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells

artículo científico publicado en 2007

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis

artículo científico publicado en 2003

Immunodeficiency diseases with rheumatic manifestations

artículo científico publicado el 1 de abril de 2012

Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient

artículo científico publicado en 2008

Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers

scientific article published on 02 October 2020

Intraarticular corticosteroid injections of the temporomandibular joint in juvenile idiopathic arthritis.

artículo científico publicado en 2008

Intravenous injection of a foamy virus vector to correct canine SCID-X1.

artículo científico publicado en 2014

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

artículo científico publicado en 2011

Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary Immunodeficiencies ⬇️

scientific article

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome

artículo científico publicado en 2004

Multiplexed Functional Assessment of Genetic Variants in CARD11

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

artículo científico publicado en 2008

Outcomes and Duration of Pneumocystis jiroveci Pneumonia Therapy in Infants With Severe Combined Immunodeficiency ⬇️

artículo científico publicado el 1 de enero de 2012

Overview of Routes of IgG Administration ⬇️

artículo científico publicado el 11 de diciembre de 2012

Primary Immune Deficiency Treatment Consortium (PIDTC) report

artículo científico publicado en 2013

Primary Immune Deficiency Treatment Consortium (PIDTC) update

artículo científico publicado en 2016

Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts

artículo científico publicado en 2014

Regulatory T cells in human autoimmune diseases

artículo científico publicado en 2006

Regulatory T cells in primary immunodeficiency diseases

artículo científico publicado en 2007

Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

artículo científico publicado en 2017

Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia.

artículo científico publicado en 2015

Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene

artículo científico publicado en 2007

Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development

artículo científico publicado en 2006

Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

artículo científico publicado en 2010

Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease

artículo científico publicado en 2010

Suppressor of cytokine signaling 3 expression is diminished in sinonasal tissues from patients with chronic rhinosinusitis with nasal polyps

artículo científico publicado en 2013

TH17 cells and regulatory T cells in primary immunodeficiency diseases

scientific article published on May 2009

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

artículo científico publicado en 2015

The International Alliance of Primary Immune Deficiency Societies

artículo científico publicado en 2018

The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018)

scientific article published on 05 September 2018

Treosulfan-based conditioning and hematopoietic cell transplantation for nonmalignant diseases: a prospective multicenter trial

artículo científico publicado en 2014

Tryptic peptide screening for primary immunodeficiency disease by LC/MS‐MS ⬇️

artículo científico publicado el 1 de agosto de 2012

Vaccination with a UV-irradiated genetically attenuated mutant of Staphylococcus aureus provides protection against subsequent systemic infection.

artículo científico publicado en 2012

Lista de obras de

A Novel Targeted Screening Tool for Hypogammaglobulinemia: Measurement of Serum Immunoglobulin (IgG, IgM, IgA) Levels from Dried Blood Spots (Ig-DBS Assay).

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy

Accumulation of peripheral autoreactive B cells in the absence of functional human regulatory T cells.

Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome

Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor

Astrovirus encephalitis in boy with X-linked agammaglobulinemia

Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents

Autoantibodies in scurfy mice and IPEX patients recognize keratin 14.

CD4+FOXP3+ regulatory T cells confer long-term regulation of factor VIII-specific immune responses in plasmid-mediated gene therapy-treated hemophilia mice

Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT

Class switch recombination defects: impact on b cell maturation and antibody responses

Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.

Common variable immunodeficiency as the initial presentation of dyskeratosis congenita

Comèl-Netherton syndrome defined as primary immunodeficiency

Correction to: Infections in Infants with SCID: Isolation, Infection Screening and Prophylaxis in PIDTC Centers

Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT

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 Conten

DOCK8 regulates fitness and function of regulatory T cells through modulation of IL-2 signaling

Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.

Diagnosis and evaluation of primary panhypogammaglobulinemia: A molecular and genetic challenge ⬇️

Early-onset stroke and vasculopathy associated with mutations in ADA2

Eczematous dermatitis in primary immunodeficiencies: A review of cutaneous clues to diagnosis

Effect of rituximab on human in vivo antibody immune responses ⬇️

Excellent Outcomes Following Hematopoietic Cell Transplantation for Wiskott-Aldrich Syndrome: A PIDTC Report

FOXP3 acts as a rheostat of the immune response

Gene editing to induce FOXP3 expression in human CD4+ T cells leads to a stable regulatory phenotype and function

HLA-Haploidentical Hematopoietic Cell Transplantation for Treatment of Non-Malignant Diseases Using Nonmyeloablative Conditioning and Post-Transplant Cyclophosphamide

Health-related quality of life in patients with primary immunodeficiency disease

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey

Hematopoietic stem cell transplantation for CTLA4 deficiency

Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation

IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.

Immune dysregulation in primary immunodeficiency disorders

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: a model of immune dysregulation

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis

Immunodeficiency diseases with rheumatic manifestations

Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient

Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers

Intraarticular corticosteroid injections of the temporomandibular joint in juvenile idiopathic arthritis.

Intravenous injection of a foamy virus vector to correct canine SCID-X1.

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary Immunodeficiencies ⬇️

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome

Multiplexed Functional Assessment of Genetic Variants in CARD11

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

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

Outcomes and Duration of Pneumocystis jiroveci Pneumonia Therapy in Infants With Severe Combined Immunodeficiency ⬇️

Overview of Routes of IgG Administration ⬇️

Primary Immune Deficiency Treatment Consortium (PIDTC) report

Primary Immune Deficiency Treatment Consortium (PIDTC) update

Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts

Regulatory T cells in human autoimmune diseases

Regulatory T cells in primary immunodeficiency diseases

Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia.

Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene

Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development

Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease

Suppressor of cytokine signaling 3 expression is diminished in sinonasal tissues from patients with chronic rhinosinusitis with nasal polyps

TH17 cells and regulatory T cells in primary immunodeficiency diseases

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

The International Alliance of Primary Immune Deficiency Societies

The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018)

Treosulfan-based conditioning and hematopoietic cell transplantation for nonmalignant diseases: a prospective multicenter trial

Tryptic peptide screening for primary immunodeficiency disease by LC/MS‐MS ⬇️

Vaccination with a UV-irradiated genetically attenuated mutant of Staphylococcus aureus provides protection against subsequent systemic infection.