Hematologically important mutations: X-linked chronic granulomatous disease (fourth 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 bacterial and fungal infections. The …

Neonatal manifestations of chronic granulomatous disease: MAS/HLH and necrotizing pneumonia as unusual phenotypes and review of the literature

A Marzollo, F Conti, L Rossini, B Rivalta… - Journal of Clinical …, 2022 - Springer
Chronic granulomatous disease (CGD) is a rare inborn error of immunity (IEI), characterized
by a deficient phagocyte killing due to the inability of NADPH oxidase to produce reactive …

Clinical, immunological, and molecular profile of chronic granulomatous disease: a multi-centric study of 236 patients from India

A Rawat, P Vignesh, M Sudhakar, M Sharma… - Frontiers in …, 2021 - frontiersin.org
Background Chronic granulomatous disease (CGD) is an inherited defect in phagocytic
respiratory burst that results in severe and life-threatening infections in affected children …

Infection profile in chronic granulomatous disease: a 23-year experience from a tertiary care center in North India

A Rawat, P Vignesh, A Sharma, JK Shandilya… - Journal of clinical …, 2017 - Springer
Purpose Chronic granulomatous disease (CGD) is an inherited phagocytic disorder
characterized by recurrent infections with usually catalase-positive organisms. Infections in …

Second report of chronic granulomatous disease in Jordan: clinical and genetic description of 31 patients from 21 different families, including families from Lybia and …

FG Bakri, M Mollin, S Beaumel, B Vigne… - Frontiers in …, 2021 - frontiersin.org
Chronic granulomatous Disease (CGD) is a rare innate immunodeficiency disorder caused
by mutations in one of the six genes (CYBA, CYBB, NCF1, NCF2, NCF4, and CYBC1/EROS) …

Chronic granulomatous disease

A Rawat, S Bhattad, S Singh - The Indian Journal of Pediatrics, 2016 - Springer
Chronic granulomatous disease (CGD) is the most common symptomatic phagocytic defect.
It is caused by mutations in genes encoding protein subunits of the nicotinamide adenine …

Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages

N Kutukculer, A Aykut, NE Karaca… - Scandinavian …, 2019 - Wiley Online Library
Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by
susceptibility to bacterial and fungal infections resulting from the inadequacy of phagocytic …

Patterns of primary immunodeficiency disorders among a highly consanguineous population: Cairo University Pediatric Hospital's 5-year experience

N Galal, S Meshaal, R Elhawary, DA ElAziz… - Journal of clinical …, 2016 - Springer
Abstract Introduction Primary immunodeficiency disorders (PIDs) are heterogeneous
disorders that mainly present with severe, persistent, unusual, or recurrent infections in …

Clinical, Immunological, and Molecular Findings of Patients with p47phox Defect Chronic Granulomatous Disease (CGD) in Indian Families

M Kulkarni, M Desai, M Gupta, A Dalvi, P Taur… - Journal of clinical …, 2016 - Springer
Chronic granulomatous disease (CGD) is a group of inherited disorder of phagocytes,
resulting from mutations in the components of the NADPH oxidase complex. Reduced or …

Approach to molecular diagnosis of chronic granulomatous disease (CGD): an experience from a large cohort of 90 Indian patients

M Kulkarni, G Hule, M de Boer, K van Leeuwen… - Journal of clinical …, 2018 - Springer
Background Chronic granulomatous disease (CGD) is characterized by mutation in any one
of the five genes coding NADPH oxidase components that leads to functional abnormality …