Chronic granulomatous disease

JW Leiding, SM Holland - Stiehm's Immune Deficiencies, 2020 - Elsevier
Chronic granulomatous disease is a primary immunodeficiency caused by defects in the
structural subunits of the NADPH oxidase. Impaired NADPH oxidase function leads to a …

Recent topics and advanced therapies in chronic granulomatous disease

H Nunoi, H Nakamura, T Nishimura, M Matsukura - Human cell, 2023 - Springer
Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by the
inability of phagocytes to produce reactive oxygen species (ROS) owing to a defect in any of …

Hematologically important mutations: the autosomal forms of chronic granulomatous disease (third update)

D Roos, K Van Leeuwen, AP Hsu, DL Priel… - Blood Cells, Molecules …, 2021 - Elsevier
Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in
250,000 individuals. CGD patients suffer from severe, recurrent bacterial and fungal …

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India

A Rawat, M Sharma, P Vignesh, AK Jindal, D Suri… - Scientific Reports, 2022 - nature.com
Inborn errors of immunity (IEI) are a heterogeneous group of monogenic disorders that
include primary immunodeficiency's and other disorders affecting different aspects of the …

Inborn errors of immunity—the Sri Lankan experience 2010–2022

D Dasanayake, J Bustamante… - Journal of clinical …, 2023 - Springer
Purpose Inborn errors of immunity (IEI) are typically monogenic. Data from the Indian
subcontinent are relatively scarce. This paper evaluates IEI diagnosed in Sri Lanka …

Impact of COVID-19 Pandemic on Clinical Care of Patients and Psychosocial Health of Affected Families with Chronic Granulomatous Disease: An Observational …

P Vignesh, R Sharma, P Barman, S Mondal… - Journal of Clinical …, 2023 - Springer
Day-to-day clinical management of patients with inborn errors of immunity, including chronic
granulomatous disease (CGD), has been affected by the coronavirus disease-2019 (COVID …

Chronic Granulomatous Disease: a Cohort of 173 Patients—10-Years Single Center Experience from Egypt

D Abd Elaziz, R El Hawary, S Meshaal… - Journal of Clinical …, 2023 - Springer
Purpose Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency
disorder of phagocytes, characterized by recurrent fungal and bacterial infections. Our aim is …

A novel mutation in EROS (CYBC1) causes chronic granulomatous disease

PM Mortimer, E Nichols, J Thomas, R Shanbhag… - Clinical …, 2023 - Elsevier
Abstract Chronic Granulomatous Disease (CGD) is an inborn error of immunity
characterised by opportunistic infection and sterile granulomatous inflammation. CGD is …

Chronic granulomatous disease (CGD): commonly associated pathogens, diagnosis and treatment

AA Justiz-Vaillant, AFA Williams-Persad… - Microorganisms, 2023 - mdpi.com
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by a defect in
the phagocytic function of the innate immune system owing to mutations in genes encoding …

Inflammatory Complications in Chronic Granulomatous Disease

A Grammatikos, AR Gennery - Journal of Clinical Medicine, 2024 - mdpi.com
Chronic granulomatous disease (CGD) is a rare inborn error of immunity that typically
manifests with infectious complications. As the name suggest though, inflammatory …