Lista de obras -

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

artículo científico publicado en 2019

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency

scientific article published on 09 September 2020

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Biallelic mutations in IRF8 impair human NK cell maturation and function ⬇️

artículo científico publicado en 2016

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

artículo científico publicado en 2020

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

scientific article published on 10 February 2017

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

artículo científico publicado en 2018

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

scientific article published on 01 July 2020

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

artículo científico publicado en 2018

Human NK cell deficiency as a result of biallelic mutations in MCM10

scientific article published on 31 August 2020

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

article

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation

scientific article published on 11 September 2019

Mechanisms of tolerance to parental parathyroid tissue when combined with human allogeneic thymus transplantation ⬇️

artículo científico publicado el 15 de septiembre de 2010

Mutations in PI3K110δ cause impaired NK cell function partially rescued by rapamycin treatment

artículo científico publicado en 2018

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168.

artículo científico publicado en 2017

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

scientific article published on 30 July 2019

PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections

artículo científico publicado en 2021

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

artículo científico publicado en 2016

Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING.

artículo científico publicado en 2018

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

artículo científico publicado en 2016

Lista de obras de

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Biallelic mutations in IRF8 impair human NK cell maturation and function ⬇️

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Human NK cell deficiency as a result of biallelic mutations in MCM10

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation

Mechanisms of tolerance to parental parathyroid tissue when combined with human allogeneic thymus transplantation ⬇️

Mutations in PI3K110δ cause impaired NK cell function partially rescued by rapamycin treatment

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168.

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING.

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.