Lista de obras -

12. Primary immunodeficiency diseases

artículo científico publicado en 2003

A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton.

artículo científico publicado en 2016

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

scientific journal article

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

artículo científico publicado en 2012

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding ⬇️

artículo científico publicado el 3 de marzo de 2011

A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside

artículo científico publicado en 2013

A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma

artículo científico publicado en 2020

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

artículo científico publicado en 2013

Animal models of atopic dermatitis

artículo científico publicado en 2009

Aspartame: review of safety

artículo científico publicado en 2002

Author Correction: A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma

scientific article published on 19 November 2020

Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly.

artículo científico publicado en 2015

Binding of WIP to actin is essential for T cell actin cytoskeleton integrity and tissue homing.

artículo científico publicado en 2014

Binding of the WASP/N-WASP-interacting protein WIP to actin regulates focal adhesion assembly and adhesion

artículo científico publicado en 2014

Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia

artículo científico publicado en 2015

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

artículo científico publicado en 2015

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

artículo científico publicado en 2016

CCR3 is essential for skin eosinophilia and airway hyperresponsiveness in a murine model of allergic skin inflammation

artículo científico publicado en 2002

Cdc42 interacting protein 4 (CIP4) is essential for integrin-dependent T-cell trafficking.

artículo científico publicado en 2010

Cellular and molecular mechanisms in atopic dermatitis

artículo científico publicado en 2009

Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature.

artículo científico publicado en 2017

Clinical, Immunological and Genetic Spectrum of 696 Patients with Combined Immunodeﬁciency.

artículo científico publicado en 2017

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

artículo científico publicado en 2012

Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα)

artículo científico publicado en 2021

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 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients

artículo científico publicado en 2015

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations

artículo científico publicado en 2002

Desloratadine inhibits allergen-induced airway inflammation and bronchial hyperresponsiveness and alters T-cell responses in murine models of asthma

artículo científico publicado en 2003

Development of skin lesions in filaggrin-deficient mice is dependent on adaptive immunity.

artículo científico publicado en 2013

Differential role of SLP-76 domains in T cell development and function

artículo científico publicado en 2002

Enteropathogenic Escherichia coli and vaccinia virus do not require the family of WASP-interacting proteins for pathogen-induced actin assembly

scientific journal article

Eosinophil-derived leukotriene C4 signals via type 2 cysteinyl leukotriene receptor to promote skin fibrosis in a mouse model of atopic dermatitis.

artículo científico publicado en 2012

Epicutaneous antigen exposure induces a Th17 response that drives airway inflammation after inhalation challenge

artículo científico publicado en 2007

Epicutaneous challenge of orally immunized mice redirects antigen-specific gut-homing T cells to the skin

artículo científico publicado en 2011

Epicutaneous sensitization results in IgE-dependent intestinal mast cell expansion and food-induced anaphylaxis.

artículo científico publicado en 2013

Erk/Src phosphorylation of cortactin acts as a switch on-switch off mechanism that controls its ability to activate N-WASP

artículo científico publicado en 2004

Exaggerated IL-17 response to epicutaneous sensitization mediates airway inflammation in the absence of IL-4 and IL-13.

artículo científico publicado en 2009

Filaggrin deficiency promotes the dissemination of cutaneously inoculated vaccinia virus

artículo científico publicado en 2015

Filaggrin-deficient mice exhibit TH17-dominated skin inflammation and permissiveness to epicutaneous sensitization with protein antigen

artículo científico publicado en 2009

Filaggrin-dependent secretion of sphingomyelinase protects against staphylococcal α-toxin-induced keratinocyte death

artículo científico publicado en 2012

Food allergy: Insights into etiology, prevention, and treatment provided by murine models.

scientific article published on February 2014

Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration.

artículo científico publicado en 2017

Hyper IgM Syndrome: a Report from the USIDNET Registry

artículo científico publicado en 2016

IL-21R is essential for epicutaneous sensitization and allergic skin inflammation in humans and mice.

artículo científico publicado en 2008

IL-23 induced in keratinocytes by endogenous TLR4 ligands polarizes dendritic cells to drive IL-22 responses to skin immunization

artículo científico publicado en 2016

IL-33 promotes food anaphylaxis in epicutaneously sensitized mice by targeting mast cells

artículo científico publicado en 2016

IgG Fc receptor polymorphisms in human disease: implications for intravenous immunoglobulin therapy

artículo científico publicado en 2003

Immunization with modified vaccinia virus Ankara prevents eczema vaccinatum in a murine model of atopic dermatitis.

artículo científico publicado en 2011

Impaired IgA class switching in APRIL-deficient mice

artículo científico publicado en 2004

Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients

artículo científico publicado en 2010

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

artículo científico publicado en 2015

Inherited human IFNγ deficiency underlies mycobacterial disease

artículo científico publicado en 2020

Injury, dysbiosis, and filaggrin deficiency drive skin inflammation through keratinocyte IL-1α release

scientific article published on 19 September 2018

Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function

artículo científico publicado en 2014

Leukotriene B4-driven neutrophil recruitment to the skin is essential for allergic skin inflammation

artículo científico publicado en 2012

Ligation of CD46 to CD40 inhibits CD40 signaling in B cells

artículo científico publicado en 2011

Mechanical injury polarizes skin dendritic cells to elicit a T(H)2 response by inducing cutaneous thymic stromal lymphopoietin expression

artículo científico publicado en 2010

Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation

artículo científico publicado en 2002

MyD88 signaling in T regulatory cells by endogenous ligands dampens skin inflammation in filaggrin deficient mice

artículo científico publicado en 2018

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

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

scientific article published on 12 March 2019

Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-α 2b therapy

artículo científico publicado en 2014

Platelet-associated IgAs and impaired GPVI responses in platelets lacking WIP.

artículo científico publicado en 2009

Primary immunodeficiencies: 2009 update

artículo científico publicado en 2009

Primary immunodeficiency diseases: an update

artículo científico publicado en 2004

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

artículo científico publicado en 2007

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005

artículo científico publicado en 2006

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

artículo científico publicado en 2011

RORα-expressing T regulatory cells restrain allergic skin inflammation.

artículo científico publicado en 2018

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype

artículo científico publicado en 2014

Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency

artículo científico publicado en 2014

TACI is mutant in common variable immunodeficiency and IgA deficiency

artículo científico publicado en 2005

TSLP acts on infiltrating effector T cells to drive allergic skin inflammation

artículo científico publicado en 2008

Targeted inactivation of the IL-4 receptor alpha chain I4R motif promotes allergic airway inflammation

artículo científico publicado en 2003

The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency

artículo científico publicado en 2014

The H1 histamine receptor regulates allergic lung responses.

artículo científico publicado en 2006

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

artículo científico publicado en 2015

The mature activating natural killer cell immunologic synapse is formed in distinct stages

artículo científico publicado en 2003

The microbiota is important for IL-17A expression and neutrophil infiltration in lesional skin of Flg(ft/ft) mice

artículo científico publicado en 2014

The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation

artículo científico publicado en 2004

The prostaglandin D₂ receptor CRTH2 is important for allergic skin inflammation after epicutaneous antigen challenge.

artículo científico publicado en 2010

Thymic stromal lymphopoietin

artículo científico publicado en 2010

Thymic stromal lymphopoietin and IL-33 promote skin inflammation and vaccinia virus replication in a mouse model of atopic dermatitis

artículo científico publicado en 2016

Toll-like receptor 9, transmembrane activator and calcium-modulating cyclophilin ligand interactor, and CD40 synergize in causing B-cell activation

artículo científico publicado en 2011

Transcellular diapedesis is initiated by invasive podosomes

artículo científico publicado en 2007

Vaccinia Ig ameliorates eczema vaccinatum in a murine model of atopic dermatitis

artículo científico publicado en 2011

Vaccinia virus inoculation in sites of allergic skin inflammation elicits a vigorous cutaneous IL-17 response

artículo científico publicado en 2009

WAVE2 deficiency reveals distinct roles in embryogenesis and Rac-mediated actin-based motility

scientific journal article

WIP deficiency reveals a differential role for WIP and the actin cytoskeleton in T and B cell activation

artículo científico publicado en 2002

WIP is critical for T cell responsiveness to IL-2

scholarly article

Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses

artículo científico publicado en 2002

Wiskott-Aldrich syndrome: a comprehensive review

artículo científico publicado en 2013

Lista de obras de

12. Primary immunodeficiency diseases

A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton.

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding ⬇️

A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside

A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

Animal models of atopic dermatitis

Aspartame: review of safety

Author Correction: A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma

Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly.

Binding of WIP to actin is essential for T cell actin cytoskeleton integrity and tissue homing.

Binding of the WASP/N-WASP-interacting protein WIP to actin regulates focal adhesion assembly and adhesion

Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

CCR3 is essential for skin eosinophilia and airway hyperresponsiveness in a murine model of allergic skin inflammation

Cdc42 interacting protein 4 (CIP4) is essential for integrin-dependent T-cell trafficking.

Cellular and molecular mechanisms in atopic dermatitis

Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature.

Clinical, Immunological and Genetic Spectrum of 696 Patients with Combined Immunodeﬁciency.

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα)

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 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

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

Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations

Desloratadine inhibits allergen-induced airway inflammation and bronchial hyperresponsiveness and alters T-cell responses in murine models of asthma

Development of skin lesions in filaggrin-deficient mice is dependent on adaptive immunity.

Differential role of SLP-76 domains in T cell development and function

Enteropathogenic Escherichia coli and vaccinia virus do not require the family of WASP-interacting proteins for pathogen-induced actin assembly

Eosinophil-derived leukotriene C4 signals via type 2 cysteinyl leukotriene receptor to promote skin fibrosis in a mouse model of atopic dermatitis.

Epicutaneous antigen exposure induces a Th17 response that drives airway inflammation after inhalation challenge

Epicutaneous challenge of orally immunized mice redirects antigen-specific gut-homing T cells to the skin

Epicutaneous sensitization results in IgE-dependent intestinal mast cell expansion and food-induced anaphylaxis.

Erk/Src phosphorylation of cortactin acts as a switch on-switch off mechanism that controls its ability to activate N-WASP

Exaggerated IL-17 response to epicutaneous sensitization mediates airway inflammation in the absence of IL-4 and IL-13.

Filaggrin deficiency promotes the dissemination of cutaneously inoculated vaccinia virus

Filaggrin-deficient mice exhibit TH17-dominated skin inflammation and permissiveness to epicutaneous sensitization with protein antigen

Filaggrin-dependent secretion of sphingomyelinase protects against staphylococcal α-toxin-induced keratinocyte death

Food allergy: Insights into etiology, prevention, and treatment provided by murine models.

Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration.

Hyper IgM Syndrome: a Report from the USIDNET Registry

IL-21R is essential for epicutaneous sensitization and allergic skin inflammation in humans and mice.

IL-23 induced in keratinocytes by endogenous TLR4 ligands polarizes dendritic cells to drive IL-22 responses to skin immunization

IL-33 promotes food anaphylaxis in epicutaneously sensitized mice by targeting mast cells

IgG Fc receptor polymorphisms in human disease: implications for intravenous immunoglobulin therapy

Immunization with modified vaccinia virus Ankara prevents eczema vaccinatum in a murine model of atopic dermatitis.

Impaired IgA class switching in APRIL-deficient mice

Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

Inherited human IFNγ deficiency underlies mycobacterial disease

Injury, dysbiosis, and filaggrin deficiency drive skin inflammation through keratinocyte IL-1α release

Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function

Leukotriene B4-driven neutrophil recruitment to the skin is essential for allergic skin inflammation

Ligation of CD46 to CD40 inhibits CD40 signaling in B cells

Mechanical injury polarizes skin dendritic cells to elicit a T(H)2 response by inducing cutaneous thymic stromal lymphopoietin expression

Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation

MyD88 signaling in T regulatory cells by endogenous ligands dampens skin inflammation in filaggrin deficient mice

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

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-α 2b therapy

Platelet-associated IgAs and impaired GPVI responses in platelets lacking WIP.

Primary immunodeficiencies: 2009 update

Primary immunodeficiency diseases: an update

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

RORα-expressing T regulatory cells restrain allergic skin inflammation.

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype

Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency

TACI is mutant in common variable immunodeficiency and IgA deficiency

TSLP acts on infiltrating effector T cells to drive allergic skin inflammation

Targeted inactivation of the IL-4 receptor alpha chain I4R motif promotes allergic airway inflammation

The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency

The H1 histamine receptor regulates allergic lung responses.

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency