Lista de obras -

Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency

artículo científico publicado en 2014

Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature

artículo científico publicado en 2016

Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency

artículo científico publicado en 2011

Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation

artículo científico publicado en 2015

Autoimmunity, Intestinal Lymphoid Hyperplasia, and Defects in Mucosal B-Cell Homeostasis in Patients With PTEN Hamartoma Tumor Syndrome

artículo científico publicado en 2012

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

artículo científico publicado en 2014

CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome.

artículo científico publicado en 2018

Clinical and Molecular Heterogeneity of RTEL1 Deficiency

artículo científico publicado en 2017

Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency

artículo científico publicado en 2017

Deficiency of innate and acquired immunity caused by an IKBKB mutation.

artículo científico publicado en 2013

Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity

scientific article published on 23 November 2019

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome

artículo científico publicado en 2016

Disturbed B-lymphocytes selection in autoimmune lymphoproliferative syndrome

artículo científico publicado en 2015

Early prediction of capillary leak syndrome in infants after cardiopulmonary bypass

artículo científico publicado en 2013

Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

artículo científico publicado en 2014

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

artículo científico publicado en 2016

Frequency, function and CLA expression of CD4+CD25+FOXP3+ regulatory T cells in bullous pemphigoid

artículo científico publicado en 2007

Germline TET2 Loss-Of-Function Causes Childhood Immunodeficiency And Lymphoma

artículo científico publicado en 2020

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

artículo científico publicado en 2015

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.

artículo científico publicado en 2016

IgG4-related disease in autoimmune lymphoproliferative syndrome

artículo científico publicado en 2017

Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells

artículo científico publicado en 2016

Inhaled vasoactive intestinal peptide exerts immunoregulatory effects in sarcoidosis.

artículo científico publicado en 2010

Innate and adaptive immune responses in allergic contact dermatitis and autoimmune skin diseases.

artículo científico publicado en 2007

Mitochondrial Priming by CD28.

artículo científico publicado en 2017

ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysis

artículo científico publicado en 2011

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

artículo científico publicado en 2015

Patients with T+/lowNK+IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency

artículo científico publicado en 2014

Primary and secondary hemophagocytic lymphohistiocytosis have different patterns of T-cell activation, differentiation and repertoire.

artículo científico publicado en 2016

Reduced numbers of circulating gammadelta T cells in patients with bullous pemphigoid

artículo científico publicado en 2009

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling

artículo científico publicado en 2015

Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia

scientific article published on 12 July 2013

Somatic loss of heterozygosity, but not haploinsufficiency alone, leads to full-blown autoimmune lymphoproliferative syndrome in 1 of 12 family members with FAS start codon mutation

Lista de obras de

Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency

Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature

Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency

Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation

Autoimmunity, Intestinal Lymphoid Hyperplasia, and Defects in Mucosal B-Cell Homeostasis in Patients With PTEN Hamartoma Tumor Syndrome

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome.

Clinical and Molecular Heterogeneity of RTEL1 Deficiency

Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency

Deficiency of innate and acquired immunity caused by an IKBKB mutation.

Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome

Disturbed B-lymphocytes selection in autoimmune lymphoproliferative syndrome

Early prediction of capillary leak syndrome in infants after cardiopulmonary bypass

Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

Frequency, function and CLA expression of CD4+CD25+FOXP3+ regulatory T cells in bullous pemphigoid

Germline TET2 Loss-Of-Function Causes Childhood Immunodeficiency And Lymphoma

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.

IgG4-related disease in autoimmune lymphoproliferative syndrome

Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells

Inhaled vasoactive intestinal peptide exerts immunoregulatory effects in sarcoidosis.

Innate and adaptive immune responses in allergic contact dermatitis and autoimmune skin diseases.

Mitochondrial Priming by CD28.

ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysis

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Patients with T+/lowNK+IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency

Primary and secondary hemophagocytic lymphohistiocytosis have different patterns of T-cell activation, differentiation and repertoire.

Reduced numbers of circulating gammadelta T cells in patients with bullous pemphigoid

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling

Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia

Somatic loss of heterozygosity, but not haploinsufficiency alone, leads to full-blown autoimmune lymphoproliferative syndrome in 1 of 12 family members with FAS start codon mutation