Lista de obras -

All hands on deck: A multidisciplinary approach to SARS-CoV-2-associated MIS-C

artículo científico publicado en 2022

Calm in the midst of cytokine storm: a collaborative approach to the diagnosis and treatment of hemophagocytic lymphohistiocytosis and macrophage activation syndrome

scientific article published on 14 February 2019

DOCK8 deficiency: Insights into pathophysiology, clinical features and management.

artículo científico publicado en 2017

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.

artículo científico publicado en 2018

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.

artículo científico publicado en 2017

Extended analysis of parent and child confidence in recognizing anaphylaxis and using the epinephrine autoinjector during oral food challenges

article

Germline CBM-opathies: From immunodeficiency to atopy

artículo científico publicado en 2019

Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency

artículo científico publicado en 2016

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

scientific article published on 22 August 2019

Inactivation of mammalian target of rapamycin increases STAT1 nuclear content and transcriptional activity in alpha4- and protein phosphatase 2A-dependent fashion.

artículo científico publicado en 2009

Innate immune control of EBV-infected B cells by invariant natural killer T cells

artículo científico publicado en 2013

Looking back at the diagnosis of PFAPA: a retrospecitve analysis of a prospective cohort study.

artículo científico publicado en 2015

Monogenic immune disorders and severe atopic disease.

artículo científico publicado en 2017

Newborn screening for severe combined immunodeficiency: a primer for clinicians.

artículo científico publicado en 2017

P02-004 - AIDs in a registry of children in North America.

artículo científico publicado en 2013

PW02-004 - Autoinflammatory syndromes: a clinical review.

artículo científico publicado en 2013

Pre-diagnostic genotyping identifies T1D subjects with impaired Treg IL-2 signaling and an elevated proportion of FOXP3+IL-17+ cells

artículo científico publicado en 2017

Recurrent sterile abscesses in a case of X-linked neutropenia

artículo científico publicado en 2020

SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

Studying patients with autoinflammatory diseases: the past, present, and a perspective for the future

artículo científico publicado en 2015

The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant

artículo científico publicado en 2018

Lista de obras de

All hands on deck: A multidisciplinary approach to SARS-CoV-2-associated MIS-C

Calm in the midst of cytokine storm: a collaborative approach to the diagnosis and treatment of hemophagocytic lymphohistiocytosis and macrophage activation syndrome

DOCK8 deficiency: Insights into pathophysiology, clinical features and management.

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.

Extended analysis of parent and child confidence in recognizing anaphylaxis and using the epinephrine autoinjector during oral food challenges

Germline CBM-opathies: From immunodeficiency to atopy

Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

Inactivation of mammalian target of rapamycin increases STAT1 nuclear content and transcriptional activity in alpha4- and protein phosphatase 2A-dependent fashion.

Innate immune control of EBV-infected B cells by invariant natural killer T cells

Looking back at the diagnosis of PFAPA: a retrospecitve analysis of a prospective cohort study.

Monogenic immune disorders and severe atopic disease.

Newborn screening for severe combined immunodeficiency: a primer for clinicians.

P02-004 - AIDs in a registry of children in North America.

PW02-004 - Autoinflammatory syndromes: a clinical review.

Pre-diagnostic genotyping identifies T1D subjects with impaired Treg IL-2 signaling and an elevated proportion of FOXP3+IL-17+ cells

Recurrent sterile abscesses in a case of X-linked neutropenia

SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

Studying patients with autoinflammatory diseases: the past, present, and a perspective for the future

The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant