Lista de obras -

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

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

artículo científico publicado en 2020

Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis

Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms

artículo científico publicado en 2019

Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus.

artículo científico publicado en 2018

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

artículo científico publicado en 2020

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

artículo científico publicado en 2018

HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI ⬇️

artículo científico publicado el 1 de diciembre de 2010

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

artículo científico publicado en 2014

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

scientific article published on 24 June 2019

MHC class II deficiency: Report of a novel mutation and special review

artículo científico publicado en 2017

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

artículo científico publicado en 2015

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

artículo científico

Protein Kinase C δ: a Gatekeeper of Immune Homeostasis

artículo científico publicado en 2016

Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations

article

The Human Phenotype Ontology in 2024: phenotypes around the world

artículo científico publicado en 2023

The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity

scientific article published on 01 July 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

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

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis

Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms

Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus.

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

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

HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI ⬇️

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

MHC class II deficiency: Report of a novel mutation and special review

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

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

Protein Kinase C δ: a Gatekeeper of Immune Homeostasis

Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations

The Human Phenotype Ontology in 2024: phenotypes around the world

The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity

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