The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease
Abstract
HRONIC granulomatous disease (CGD) is an immuno-C deficiency syndrome characterized clinically by severe recurrent bacterial and fungal infections that are difficult to treat by conventional means.These infections predominate in the lymph nodes, the subcutaneous tissues, the lungs, the liver and the bones.Gastrointestinal manifestations include diarrhea, perianal abscesses, and obstructions caused by granuloma formation.The disease is usually recognized in young children below the age of 2, but sometimes it is recognized later.'Biochemically, CGD is characterized by the inability of phagocytic leukocytes (neutrophils, eosinophils, monocytes, and macrophages) to generate reactive oxygen compounds, which are needed for intracellular killing of phagocytized microorganisms.'Therefore, the most common pathogens encountered in CGD patients are catalase-positive organisms, because catalase prevents the CGD phagocytes from using microbial-generated hydrogen peroxide for killing these pathogens.Predominant are Staphylococcus uureus, Aspergillus species, and a variety of Gram-negative enteric bacilli.CGD is a rare disease, with an estimated incidence of 1 in about 250,000 individuals, without any ethnic preference.Clinically and biochemically, CGD is a very heterogenous disorder due to the existence of many antimicrobial systems that can partially compensate for the defect in oxygen-dependent killing systems and to the complicated genetic origin of CGD.In this review, a short overview will be given of our present knowledge of the NADPH oxidase, the enzyme that is responsible for the production of antimicrobial oxygen compounds in leukocytes.This will be followed by a summary of all known mutations in the genes that encode the various NADPH oxidase components, and thus lead to the manifestation of CGD.This knowledge is of importance for a better understanding of the functional domains within the oxidase components, for improved prenatal and postnatal diagnosis of CGD, and for advances in therapy, including the future use of gene replacement.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Pollock, J. D., Williams, D. A., Gifford, M. A. C., Li, L. L., Du, X., Fisherman, J., Orkin, S. H., Doerschuk, C. M., & Dinauer, M. C. (1995) · Nature Genetics · doi:10.1038/ng0295-202 · Cited by 921
Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., & Orkin, S. H. (1986) · Nature · doi:10.1038/322032a0 · Cited by 833
The p47phox mouse knock-out model of chronic granulomatous disease.
Jackson, S. H., Gallin, J. I., & Holland, S. M. (1995) · The Journal of experimental medicine · doi:10.1084/jem.182.3.751 · Cited by 484
Parkos, C. A., Allen, R. A., Cochrane, C. G., & Jesaitis, A. J. (1987) · Journal of Clinical Investigation · doi:10.1172/jci113128 · Cited by 455
Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease
Volpp, B. D., Nauseef, W. M., & Clark, R. A. (1988) · Science · doi:10.1126/science.2848318 · Cited by 407
Dinauer, M. C., Orkin, S. H., Brown, R., Jesaitis, A. J., & Parkos, C. A. (1987) · Nature · doi:10.1038/327717a0 · Cited by 407
Cited by
Vitamin C: The known and the unknown and Goldilocks
Padayatty, S., & Levine, M. (2016) · Oral Diseases · doi:10.1111/odi.12446 · Cited by 753
Sumimoto, H. (2008) · The FEBS Journal · doi:10.1111/j.1742-4658.2008.06488.x · Cited by 721
Babior, B. M. (2004) · Current Opinion in Immunology · doi:10.1016/j.coi.2003.12.001 · Cited by 705
Chronic Granulomatous Disease: The European Experience
van den Berg, J. M., van Koppen, E., Åhlin, A., Belohradsky, B. H., Bernatowska, E., Corbeel, L., Español, T., Fischer, A., Kurenko-Deptuch, M., Mouy, R., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0005234 · Cited by 687
Self-citationNox4 as the Major Catalytic Component of an Endothelial NAD(P)H Oxidase
Ago, T., Kitazono, T., Ooboshi, H., Iyama, T., Han, Y. H., Takada, J., Wakisaka, M., Ibayashi, S., Utsumi, H., & Iida, M. (2004) · Circulation · doi:10.1161/01.cir.0000105680.92873.70 · Cited by 497
The NADPH oxidase of professional phagocytes—prototype of the NOX electron transport chain systems
Cross, A. R., & Segal, A. W. (2004) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2004.03.008 · Cited by 489
Self-citationHuman neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation
Ambruso, D. R., Knall, C., Abell, A. N., Panepinto, J., Kurkchubasche, A., Thurman, G., Gonzalez-Aller, C., Hiester, A., deBoer, M., Harbeck, R. J., et al. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.080074897 · Cited by 407
Self-citationTakeya, R., Ueno, N., Kami, K., Taura, M., Kohjima, M., Izaki, T., Nunoi, H., & Sumimoto, H. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m212856200 · Cited by 380
Involvement of Caspases in Neutrophil Apoptosis: Regulation by Reactive Oxygen Species
Fadeel, B., Åhlin, A., Henter, J.-I., Orrenius, S., & Hampton, M. B. (1998) · Blood · doi:10.1182/blood.v92.12.4808 · Cited by 347
Koga, H., Terasawa, H., Nunoi, H., Takeshige, K., Inagaki, F., & Sumimoto, H. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.35.25051 · Cited by 224
Finegold, A. A., Shatwell, K. P., Segal, A. W., Klausner, R. D., & Dancis, A. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.49.31021 · Cited by 213
Self-citationGp91 phox is the heme binding subunit of the superoxide-generating NADPH oxidase
Yu, L., Quinn, M. T., Cross, A. R., & Dinauer, M. C. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.14.7993 · Cited by 202
Bayir, H., Fadeel, B., Palladino, M. J., Witasp, E., Kurnikov, I. V., Tyurina, Y. Y., Tyurin, V. A., Amoscato, A. A., Jiang, J., Kochanek, P. M., et al. (2006) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2006.03.002 · Cited by 175
Kirk, E. A., Dinauer, M. C., Rosen, H., Chait, A., Heinecke, J. W., & LeBoeuf, R. C. (2000) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/01.atv.20.6.1529 · Cited by 171
Lee, P. P. W., Chan, K.-W., Jiang, L., Chen, T., Li, C., Lee, T.-L., Mak, P. H. S., Fok, S. F. S., Yang, X., & Lau, Y.-L. (2008) · Pediatric Infectious Disease Journal · doi:10.1097/inf.0b013e31815b494c · Cited by 158
Evidence consistent with human L1 retrotransposition in maternal meiosis I
Brouha, B., Meischl, C., Ostertag, E., de Boer, M., Zhang, Y., Neijens, H., Roos, D., & Kazazian, H. H. (2002) · The American Journal of Human Genetics · doi:10.1086/341722 · Cited by 122
Self-citationPizzolla, A., Hultqvist, M., Nilson, B., Grimm, M. J., Eneljung, T., Jonsson, I.-M., Verdrengh, M., Kelkka, T., Gjertsson, I., Segal, B. H., et al. (2012) · The Journal of Immunology · doi:10.4049/jimmunol.1103430 · Cited by 108
Jiang, Y., Cowley, S. A., Siler, U., Melguizo, D., Tilgner, K., Browne, C., Dewilton, A., Przyborski, S., Saretzki, G., James, W. S., et al. (2012) · Stem Cells · doi:10.1002/stem.1053 · Cited by 71
Yamazaki, T., Kawai, C., Yamauchi, A., & Kuribayashi, F. (2011) · Tropical Medicine and Health · doi:10.2149/tmh.2011-08 · Cited by 38
Self-citationRAC2 GTPase deficiency and myeloid cell dysfunction in human and mouse
Gu, Y., & Williams, D. A. (2002) · Journal of Pediatric Hematology/Oncology · doi:10.1097/00043426-200212000-00027 · Cited by 25
(2000) · PubMed
Metadata
- Authors
- Roos, D., de Boer, M., Kuribayashi, F., Meischl, C., Weening, R., Segal, A., Ahlin, A., Nemet, K., Hossle, J., Bernatowska-Matuszkiewicz, E., & Middleton-Price, H.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 1996-03-01
- Volume
- 87
- Issue
- 5
- Pages
- 1663-1681
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W1583760582
- Cited by
- 424
- References
- 6
- FWCI
- 9.82
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
