[HTML][HTML] Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: a large patient cohort study

…, H Baxendale, J Bernatoniene, JDM Edgar… - Journal of Allergy and …, 2017 - Elsevier
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently
described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD …

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

…, AJ Cutler, DS Kumararatne, A Chandra, JDM Edgar… - Nature, 2020 - nature.com
Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening
infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic …

[HTML][HTML] The extended clinical phenotype of 26 patients with chronic mucocutaneous candidiasis due to gain-of-function mutations in STAT1

…, M Carneiro-Sampaio, LA Devlin, JDM Edgar… - Journal of clinical …, 2016 - Springer
Purpose Gain-of-function (GOF) mutations in the signal transducer and activator of
transcription 1 (STAT1) result in unbalanced STAT signaling and cause immune …

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

…, L Bezrodnik, R Seger, AG Raccio, JDM Edgar… - Journal of allergy and …, 2017 - Elsevier
Background X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency with high
morbidity and mortality compared with those seen in healthy subjects. Hematopoietic cell …

[HTML][HTML] X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world

…, G Dbaibo, B Derfalvi, F Dogu, JDM Edgar… - World Allergy …, 2019 - Elsevier
Background X-linked agammaglobulinemia is an inherited immunodeficiency recognized
since 1952. In spite of seven decades of experience, there is still a limited understanding of …

The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008–2012

JDM Edgar, M Buckland, D Guzman… - Clinical & …, 2014 - academic.oup.com
This report summarizes the establishment of the first national online registry of primary
immune deficency in the United Kingdom, the United Kingdom Primary Immunodeficiency …

Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

…, J Salisbury, V Campr, M Debré, JDM Edgar… - Journal of allergy and …, 2014 - jacionline.org
LETTERS TO THE EDITOR 233 received chemotherapy and radiotherapy with irradiation of
regions above and below the diaphragm, which induced complete remission. He is now well …

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

…, K Downes, E Drewe, D Duarte, JDM Edgar… - Journal of Allergy and …, 2020 - Elsevier
Background An increasing number of NFKB1 variants are being identified in patients with
heterogeneous immunologic phenotypes. Objective To characterize the clinical and cellular …

[HTML][HTML] A prospective study of the sensitivity, specificity and diagnostic performance of soluble intercellular adhesion molecule 1, highly sensitive C-reactive protein …

JDM Edgar, V Gabriel, JR Gallimore, SA McMillan… - BMC pediatrics, 2010 - Springer
Background Diagnosis of neonatal infection is difficult, because of it's non-specific clinical
presentation and the lack of reliable diagnostic tests. The purpose of this study was to …

A systematic literature review of the effects of immunoglobulin replacement therapy on the burden of secondary immunodeficiency diseases associated with …

…, K Cheng, S Tzivelekis, JDM Edgar… - Expert review of …, 2020 - Taylor & Francis
Introduction Secondary immunodeficiency diseases (SID) caused by hematological
malignancies (HMs), stem cell transplant (SCT), and associated therapies are mainly …