Molecular diagnosis of chronic granulomatous disease

D Roos, M Boer - Clinical & Experimental Immunology, 2014 - academic.oup.com
Patients with chronic granulomatous disease (CGD) suffer from recurrent, life-threatening
bacterial and fungal infections of the skin, the airways, the lymph nodes, liver, brain and …

Primary immunodeficiency diseases and Bacillus Calmette-Guérin (BCG)-vaccine–derived complications: a systematic review

S Fekrvand, R Yazdani, P Olbrich, A Gennery… - The Journal of Allergy …, 2020 - Elsevier
Background Bacillus Calmette-Guérin (BCG) vaccine is a live attenuated bacterial vaccine
derived from Mycobacterium bovis, which is mostly administered to neonates in regions …

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 …

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

D Roos, DB Kuhns, A Maddalena, J Bustamante… - Blood Cells, Molecules …, 2010 - Elsevier
Chronic granulomatous Disease (CGD) is an immunodeficiency disorder affecting about 1 in
250,000 individuals. The disease is caused by mutations in the genes encoding the …

Neutrophils acquire antigen-presenting cell features after phagocytosis of IgG-opsonized erythrocytes

SM Meinderts, G Baker, S van Wijk, BM Beuger… - Blood …, 2019 - ashpublications.org
Neutrophils are particularly well known for their antimicrobial function. Although historically
they are regarded as strictly a phagocyte of the innate immune system, over time it has …

TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity

M Dasouki, A Jabr, G AlDakheel… - Clinical & …, 2020 - academic.oup.com
Primary immune deficiency (PID) disorders are clinically and molecularly heterogeneous
diseases. T cell receptor excision circles (TRECs) and κ (kappa)-deleting excision circles …

Transcriptomic analysis using dual RNA sequencing revealed a Pathogen–Host interaction after Edwardsiella anguillarum infection in European eel (Anguilla anguilla …

Y Xiao, L Wu, L He, Y Tang, S Guo, S Zhai - Fish & Shellfish Immunology, 2022 - Elsevier
Many studies have explored differentially expressed genes (DEGs) between some
pathogens and hosts, but no study has focused on the interaction of DEGs between …

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) …

Thirty years of primary immunodeficiencies in Turkey

O Sanal, I Tezcan - Annals of the New York Academy of …, 2011 - Wiley Online Library
Turkey, with its population of some 75 million, has a high rate of consanguineous marriages.
Because the majority of the primary immunodeficiencies (PIDs) are inherited as autosomal …

Advances in the diagnosis and treatment of chronic granulomatous disease

RA Seger - Current opinion in hematology, 2011 - journals.lww.com
CGD is more prevalent than initially believed with a birth prevalence of 1: 120 000. As
patients are increasingly diagnosed around the world and grow older, further manifestations …