A Review of Chronic Granulomatous Disease

Arnold, Danielle E.; Heimall, Jennifer

doi:10.1007/s12325-017-0636-2

Cited by 210 publications

(249 citation statements)

References 94 publications

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“…Mutations in the CYBB and CYBA , NCF1 , NFC2, and NCF4 genes, encoding for the cytosolic subunits of NOX, abrogate its activity and compromise host immunity against certain bacteria and fungi. These defects cause chronic granulomatous disease which are characterized by immunodeficiency and can cause IBD‐like intestinal inflammation . Inflammatory reactions in CGD patients (namely colitis) might be a result of impaired anti‐bacterial protection due to impaired NOX activity, resembling defects in ephithelial‐specific NADPH Oxidase 1 (NOX1) and Dual Oxidase 2 (DUOX2) in patients with severe EO‐IBD.…”

Section: Monogenic Forms Of Inflammatory Bowel Diseasementioning

confidence: 99%

Early‐onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms

Pázmándi

Kalinichenko

Ardy

et al. 2018

Immunological Reviews

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Summary Rare, monogenetic diseases present unique models to dissect gene functions and biological pathways, concomitantly enhancing our understanding of the etiology of complex (and often more common) traits. Although inflammatory bowel disease (IBD) is a generally prototypic complex disease, it can also manifest in an early‐onset, monogenic fashion, often following Mendelian modes of inheritance. Recent advances in genomic technologies have spurred the identification of genetic defects underlying rare, very early‐onset IBD (VEO‐IBD) as a disease subgroup driven by strong genetic influence, pinpointing key players in the delicate homeostasis of the immune system in the gut and illustrating the intimate relationships between bowel inflammation, systemic immune dysregulation, and primary immunodeficiency with increased susceptibility to infections. As for other human diseases, it is likely that adult‐onset diseases may represent complex diseases integrating the effects of host genetic susceptibility and environmental triggers. Comparison of adult‐onset IBD and VEO‐IBD thus provides beautiful models to investigate the relationship between monogenic and multifactorial/polygenic diseases. This review discusses the present and novel findings regarding monogenic IBD as well as key questions and future directions of IBD research.

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Section: Monogenic Forms Of Inflammatory Bowel Diseasementioning

confidence: 99%

Early‐onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms

Pázmándi

Kalinichenko

Ardy

et al. 2018

Immunological Reviews

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“…Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by susceptibility to bacterial and fungal infections resulting from the inadequacy of phagocytic leucocytes’ reactive oxygen radical production . The disease occurs approximately between 1:200 000 and 1:250 000 live births and may present at any age from infancy to late adulthood; however, the vast majority of patients are diagnosed at <5 years of age…”

Section: Introductionmentioning

confidence: 99%

“…The transmembrane glycoprotein gp91phox is encoded by CYBB gene on the X chromosome and mutations in the gp91phox gene which are responsible for 65% of the cases show X‐related (XR) inheritance. Autosomal recessive (AR) mutations in NCF1 (p47phox) gene account for about 25% of cases, and mutations in CYBA (p22phox) and NCF2 (p67phox) genes each account for about 5% of cases . There has been also one reported case of an NCF4 (p40phox) mutation resulting in CGD .…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2019

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Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by susceptibility to bacterial and fungal infections resulting from the inadequacy of phagocytic leucocytes to produce reactive oxygen radicals. CGD is a genetically heterogeneous disease with an X‐linked recessive (XR‐CGD) form caused by mutations in the CYBB (OMIM #300481) gene encoding the gp91(phox) protein, and an autosomal recessive (AR‐CGD) form caused by mutations in the CYBA (OMIM #608508), NCF1 (OMIM #608512), NCF2 (OMIM #608515) and NCF4 (OMIM #601488) genes encoding p22(phox), p47(phox), p67(phox) and p40(phox), respectively. The genetic mutation of one of the cytosolic p47phox/p67phox proteins and membrane‐bound gp91phox/p22phox proteins, which constitutes the NADPH oxidase enzyme complex, causes the disease. In this study, we evaluated the clinical, laboratory and genetic findings and the prognostic effects of molecular inheritance of our 24 CGD cases (14 XR, 10 autosomal recessive‐AR). Consanguinity (three XR and all AR cases) showed statistically significant relationship with the type of hereditary inheritance (P < 0.001). 83% patients had an infection since early infancy. The mean age of initiation of symptoms was earlier in XR cases, and 78% patients had respiratory tract infections. Bone marrow transplantation was performed in five XR cases (two ex) and four AR (one ex) cases. Three of nine XR and two of six AR cases deceased on medical follow‐up. In countries especially with high consanguinity rates, the early diagnosis for appropriate prophylactic treatment of CGD is quietly important to avoid from recurrent severe infections, early death and fatal complications of late transplantation.

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“…As a result, superoxide and other ROS are produced within the phagosome, which helps in killing the ingested pathogens (Fig. 1) [4]. Granulocyte death is regulated by the cell surface expression of sialic acid-binding immunoglobulin-like lectins (Siglecs).…”

Section: Introductionmentioning

confidence: 99%

Common Infections and Target Organs Associated with Chronic Granulomatous Disease in Iran

Mortaz

Azempour

Mansouri

et al. 2019

Int Arch Allergy Immunol

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Recurrent severe bacterial and fungal infections are characteristic features of the rare genetic immunodeficiency disorder chronic granulomatous disease (CGD). The disease usually manifests within the first years of life with an incidence of 1 in approximately 200,000 live births. The incidence is higher in Iran and Morocco where it reaches 1.5 per 100,000 live births. Mutations have been described in the 5 subunits of NADPH oxidase, mostly in gp91^phox and p47^phox, with fewer mutations reported in p67^phox, p22^phox, and p40^phox. These mutations cause loss of superoxide production in phagocytic cells. CYBB, the gene encoding the large gp91^phox subunit of the transmembrane component cytochrome b₅₅₈ of the NADPH oxidase complex, is localized on the X-chromosome. Genetic defects in CYBB are responsible for the disease in the majority of male CGD patients. CGD is associated with the development of granulomatous reactions in the skin, lungs, bones, and lymph nodes, and chronic infections may be seen in the liver, gastrointestinal tract, brain, and eyes. There is usually a history of repeated infections, including inflammation of the lymph glands, skin infections, and pneumonia. There may also be a persistent runny nose, inflammation of the skin, and inflammation of the mucous membranes of the mouth. Gastrointestinal problems can also occur, including diarrhea, abdominal pain, and perianal abscesses. Infection of the bones, brain abscesses, obstruction of the genitourinary tract and/or gastrointestinal tract due to the formation of granulomatous tissue, and delayed growth are also symptomatic of CGD. The prevention of infectious complications in patients with CGD involves targeted prophylaxis against opportunistic microorganisms such as Staphylococcus aureus, Klebsiella spp., Salmonella spp. and Aspergillus spp. In this review, we provide an update on organ involvement and the association with specific isolated microorganisms in CGD patients.

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A Review of Chronic Granulomatous Disease

Cited by 210 publications

References 94 publications

Early‐onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms

Early‐onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms

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

Common Infections and Target Organs Associated with Chronic Granulomatous Disease in Iran

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