Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

J Bustamante, S Boisson-Dupuis, L Abel… - Seminars in …, 2014 - Elsevier
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized
by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG …

A review of chronic granulomatous disease

DE Arnold, JR Heimall - Advances in therapy, 2017 - Springer
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in
any of the five subunits of the NADPH oxidase complex responsible for the respiratory burst …

Common severe infections in chronic granulomatous disease

BE Marciano, C Spalding, A Fitzgerald… - Clinical Infectious …, 2015 - academic.oup.com
Background. Chronic granulomatous disease (CGD) is due to defective nicotinamide
adenine dinucleotide phosphate oxidase activity and characterized by recurrent infections …

Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders

A Stray-Pedersen, HS Sorte, P Samarakoon… - Journal of Allergy and …, 2017 - Elsevier
Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The …

The phagocyte respiratory burst: Historical perspectives and recent advances

DC Thomas - Immunology letters, 2017 - Elsevier
When exposed to certain stimuli, phagocytes (including neutrophils, macrophages and
eosinophils) undergo marked changes in the way they handle oxygen. Firstly, their rate of …

Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients

MY Köker, Y Camcıoğlu, K Van Leeuwen… - Journal of allergy and …, 2013 - Elsevier
Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency
disorder of phagocytes resulting in impaired killing of bacteria and fungi. A mutation in one …

Chronic granulomatous disease: clinical, molecular, and therapeutic aspects

M Chiriaco, I Salfa, G Di Matteo… - Pediatric Allergy and …, 2016 - Wiley Online Library
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by
defects in the genes encoding any of the NADPH oxidase components responsible for the …

Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases

S Norouzi, A Aghamohammadi, S Mamishi… - Journal of Infection, 2012 - Elsevier
Primary immunodeficiency diseases (PIDs) are a group of inherited disorders, characterized
by defects of the immune system predisposing individuals to variety of manifestations …

Genetics of consanguinity and inbreeding in health and disease

M Fareed, M Afzal - Annals of human biology, 2017 - Taylor & Francis
Context: Inbreeding increases the level of homozygotes for autosomal recessive disorders
and is the major objective in clinical studies. The prevalence of consanguinity and the …

Chronic granulomatous disease: clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients

B Wolach, R Gavrieli, M de Boer… - American journal of …, 2017 - Wiley Online Library
Chronic granulomatous disease (CGD) is an innate immunodeficiency with a genetic defect
of the nicotinamide adenosine dinucleotide phosphate, reduced, oxidase components. This …