List of works - William Rae

A novel FOXP3 mutation causing fetal akinesia and recurrent male miscarriages

scientific article published on 24 September 2015

A novel germline gain-of-function variant in PIK3CD.

scientific article

A novel insight into the immunologic basis of chronic granulomatous invasive fungal rhinosinusitis.

scientific article published on January 2016

A study of the utility of azathioprine metabolite testing in myasthenia gravis.

scientific article

Abstracts from the 10th C1-inhibitor deficiency workshop.

scientific article

Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.

scientific article published on 7 December 2017

Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort

scientific article published on 15 September 2017

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

scientific article published on 09 April 2020

Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics

scientific article

Differential Impairment of Interferon-γ Responses in Two Cases of Pulmonary Nontuberculous Mycobacterial Disease.

scientific article

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. ⬇️

scientific article published on 16 March 2018

Evaluation of avoralstat, an oral kallikrein inhibitor, in a Phase 3 hereditary angioedema prophylaxis trial: the OPUS-2 study.

scientific article published on 24 April 2018

Features and roles of T helper 9 cells and interleukin 9 in immunological diseases

scientific article published on 25 April 2018

Indications to Epigenetic Dysfunction in the Pathogenesis of Common Variable Immunodeficiency.

scientific article published on 2 August 2016

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

scientific article published on 24 June 2019

Mucosal-Associated Invariant T (MAIT) Cells Are Impaired in Th17 Associated Primary and Secondary Immunodeficiencies

scientific article

Oral Plasma Kallikrein Inhibitor for Prophylaxis in Hereditary Angioedema

article

Precision treatment with sirolimus in a case of activated phosphoinositide 3-kinase δ syndrome.

scientific article

Role of Apoptosis in the Pathogenesis of Common Variable Immunodeficiency (CVID).

scientific article published on 19 September 2017

Selenium Toxicity Associated With Reversible Leukoencephalopathy and Cortical Blindness

scientific article published on 01 October 2018

What is new in HIES? Recent insights from the interface of primary immune deficiency and atopy

scientific article published on 01 December 2018

List of works by William Rae

A novel FOXP3 mutation causing fetal akinesia and recurrent male miscarriages

A novel germline gain-of-function variant in PIK3CD.

A novel insight into the immunologic basis of chronic granulomatous invasive fungal rhinosinusitis.

A study of the utility of azathioprine metabolite testing in myasthenia gravis.

Abstracts from the 10th C1-inhibitor deficiency workshop.

Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.

Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort

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

Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics

Differential Impairment of Interferon-γ Responses in Two Cases of Pulmonary Nontuberculous Mycobacterial Disease.

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. ⬇️

Evaluation of avoralstat, an oral kallikrein inhibitor, in a Phase 3 hereditary angioedema prophylaxis trial: the OPUS-2 study.

Features and roles of T helper 9 cells and interleukin 9 in immunological diseases

Indications to Epigenetic Dysfunction in the Pathogenesis of Common Variable Immunodeficiency.

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

Mucosal-Associated Invariant T (MAIT) Cells Are Impaired in Th17 Associated Primary and Secondary Immunodeficiencies

Oral Plasma Kallikrein Inhibitor for Prophylaxis in Hereditary Angioedema

Precision treatment with sirolimus in a case of activated phosphoinositide 3-kinase δ syndrome.

Role of Apoptosis in the Pathogenesis of Common Variable Immunodeficiency (CVID).

Selenium Toxicity Associated With Reversible Leukoencephalopathy and Cortical Blindness

What is new in HIES? Recent insights from the interface of primary immune deficiency and atopy