List of works - Amos Etzioni

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

scientific article

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

scientific article published on 26 May 2015

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

scientific article

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

scientific article

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

scientific article published on 01 January 2020

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

scientific article

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

scientific article

Fatal varicella associated with selective natural killer cell deficiency

scientific article published on 01 March 2005

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

scientific article published on 6 November 2017

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

scientific article

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

scientific article

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

scientific article published on 01 January 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

scientific article published in February 2018

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

scientific article

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

scientific article published on 11 December 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

scientific article published in August 2013

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

scientific article

Primary immunodeficiencies: 2009 update

scientific article

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

scientific article published in 2014

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

scientific article published on 8 November 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

scientific article

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

scientific article

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

scientific article published on 11 December 2017

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

scientific article

ZNF341 controls STAT3 expression and thereby immunocompetence

scientific article published on 01 June 2018

List of works by Amos Etzioni

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