Lista de obras -

4 Primary immunodeficiency mutation databases

article

A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets

artículo científico publicado en 2007

A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency

artículo científico publicado en 2015

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

artículo científico publicado en 2013

An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome

artículo científico publicado en 2003

Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

artículo científico publicado en 2020

Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.

artículo científico publicado en 2014

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

artículo científico publicado en 2012

Fatal varicella associated with selective natural killer cell deficiency

artículo científico publicado en 2005

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights

artículo científico publicado en 2017

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

artículo científico publicado en 2011

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

artículo científico publicado en 2016

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

artículo científico publicado en 2020

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

scientific article published on 17 January 2020

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

artículo científico publicado en 2018

Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients

artículo científico publicado en 2005

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

artículo científico publicado en 2017

Lazy Leukocyte Syndrome-an Enigma Finally Solved?

scientific article published on 25 November 2019

Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study

artículo científico publicado en 2013

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.

artículo científico publicado en 2015

Primary immunodeficiencies: 2009 update

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

T- and B-cell defects in a novel purine nucleoside phosphorylase mutation

scientific article published on 10 May 2012

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk

artículo científico publicado en 2014

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

artículo científico publicado en 2015

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

artículo científico publicado en 2017

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

artículo científico publicado en 2015

ZNF341 controls STAT3 expression and thereby immunocompetence

scientific article published on 01 June 2018

Lista de obras de

4 Primary immunodeficiency mutation databases

A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets

A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency

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

An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome

Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

Fatal varicella associated with selective natural killer cell deficiency

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

Lazy Leukocyte Syndrome-an Enigma Finally Solved?

Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.

Primary immunodeficiencies: 2009 update

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

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

T- and B-cell defects in a novel purine nucleoside phosphorylase mutation

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

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

ZNF341 controls STAT3 expression and thereby immunocompetence