Hematologically Important Mutations: The Autosomal Forms of Chronic Granulomatous Disease (Third Update)

Hematologically Important Mutations: The Autosomal Forms of Chronic Granulomatous Disease (Third Update) Publisher Pubmed

Roos D¹ ; Van Leeuwen K¹ ; Hsu AP² ; Priel DL³ ; Begtrup A⁴ ; Brandon R⁴ ; Rawat A⁵ ; Vignesh P⁵ ; Madkaikar M⁶ ; Stasia MJ⁷ ; Bakri FG⁸ ; De Boer M¹ ; Roesler J⁹ ; Koker N^{10, 11} Show All Authors

Roos D¹
Van Leeuwen K¹
Hsu AP²
Priel DL³
Begtrup A⁴
Brandon R⁴
Rawat A⁵
Vignesh P⁵
Madkaikar M⁶
Stasia MJ⁷
Bakri FG⁸
De Boer M¹
Roesler J⁹
Koker N^{10, 11}
Koker MY¹⁰
Jakobsen M¹²
Bustamante J¹³
Garciamorato MB^{14, 15}
Shephard JLV¹⁴
Cagdas D¹⁶
Tezcan I¹⁶
Sherkat R¹⁷
Mortaz E¹⁸
Fayezi A¹⁹
Shahrooei M^{20, 21}
Wolach B²²
Blancasgalicia L²³
Kanegane H²⁴
Kawai T²⁵
Condinoneto A²⁶
Vihinen M²⁷
Zerbe CS²
Holland SM²
Malech HL²
Gallin JI²
Kuhns DB³

Show Affiliations

1. Sanquin Research, and Karl Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands
2. Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, United States
3. Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, United States
4. GeneDx, Gaithersburg, MD, United States
5. Paediatric Allergy Immunology Unit, Department of Paediatrics, Advanced Paediatrics Centre, Postgraduate Institute of Medical Education & Research, Chandigarh, India
6. National Institute of Immunohaematology, ICMR, 13th Floor, KEM Hospital Campus, Mumbai, 400012, Parel, India
7. University Grenoble Alpes, CEA, CNRS, IBS, and Centre Hospitalier Universitaire Grenoble Alpes, Chronic Granulomatous Disease Diagnosis and Research Centre (CDiReC), Grenoble, 38000, France
8. Infectious Diseases and Vaccine Center, University of Jordan, Amman, Jordan
9. Dept of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany
10. Dept of Immunology, Erciyes University School of Medicine, Kayseri, Turkey
11. Dept of Pediatrics, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey
12. Department of Clinical Immunology, Odense University Hospital, Odense, Denmark
13. Laboratory of Human Genetics of Infectious Diseases, INSERM, U550, and Rene Descartes University, Necker Medical School, Paris, France
14. Department of Immunology, La Paz University Hospital, IdiPaz, Madrid, Spain
15. Center for Biomedical Network Research on Rare Diseases (CIBERER U767), Madrid, Spain
16. Hacettepe University Faculty of Medicine, Department of Pediatrics, Section of Pediatric Immunology, Ankara, 06100, Turkey
17. Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
18. Dept of Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
19. Dept of Allergy and Clinical Immunology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
20. Specialized Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran
21. Dept. of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium
22. Dept of Pediatrics and Laboratory for Leukocyte Function, Meir Medical Centre, Kfar Saba, Israel
23. Research Unit for Immunodeficiencies, National Institute of Pediatrics, Mexico-City, Mexico
24. Dept of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan
25. Division of Immunology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan
26. Dept of Immunology, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, Brazil
27. Dept of Experimental Medical Science, Lund University, BMC B13, Lund, SE-22184, Sweden

Source: Blood Cells, Molecules, and Diseases Published:2021

Abstract

Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe, recurrent bacterial and fungal infections. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is subsequently metabolized to hydrogen peroxide and other reactive oxygen species (ROS). These products are essential for intracellular killing of pathogens by phagocytic leukocytes (neutrophils, eosinophils, monocytes and macrophages). The leukocyte NADPH oxidase is composed of five subunits, four of which are encoded by autosomal genes. These are CYBA, encoding p22phox, NCF1, encoding p47phox, NCF2, encoding p67phox and NCF4, encoding p40phox. This article lists all mutations identified in these genes in CGD patients. In addition, cytochrome b558 chaperone-1 (CYBC1), recently recognized as an essential chaperone protein for the expression of the X-linked NADPH oxidase component gp91phox (also called Nox2), is encoded by the autosomal gene CYBC1. Mutations in this gene also lead to CGD. Finally, RAC2, a small GTPase of the Rho family, is needed for activation of the NADPH oxidase, and mutations in the RAC2 gene therefore also induce CGD-like symptoms. Mutations in these last two genes are also listed in this article. © 2021 Elsevier Inc.

2. Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-Independent Acquisition, Molecular and Cellular Proteomics (2019)

3. Nox1 Regulates Collective and Planktonic Cell Migration: Insights From Patients With Pediatric-Onset Ibd and Nox1 Deficiency, Inflammatory Bowel Diseases (2020)

4. Clinical, Immunologic, and Genetic Spectrum of 696 Patients With Combined Immunodeficiency, Journal of Allergy and Clinical Immunology (2018)

5. Global Systematic Review of Primary Immunodeficiency Registries, Expert Review of Clinical Immunology (2020)

6. Monogenic Etiologies of Persistent Human Papillomavirus Infections: A Comprehensive Systematic Review, Genetics in Medicine (2024)

7. Jagn1 Deficiency Causes Aberrant Myeloid Cell Homeostasis and Congenital Neutropenia, Nature Genetics (2014)

8. Genetic Analysis of a Cohort of 275 Patients With Hyper-Ige Syndromes And/Or Chronic Mucocutaneous Candidiasis, Journal of Clinical Immunology (2021)

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Style	Citing Format
MLA	Roos D, et al.. "Hematologically Important Mutations: The Autosomal Forms of Chronic Granulomatous Disease (Third Update)." Blood Cells, Molecules, and Diseases, vol. 92, no. , 2021, pp. -.
APA	Roos D, Van Leeuwen K, Hsu AP, Priel DL, Begtrup A, Brandon R, Rawat A, Vignesh P, Madkaikar M, Stasia MJ, Bakri FG, De Boer M, Roesler J, Koker N, Koker MY, Jakobsen M, Bustamante J, Garciamorato MB, Shephard JLV, ... Kuhns DB (2021). Hematologically Important Mutations: The Autosomal Forms of Chronic Granulomatous Disease (Third Update). Blood Cells, Molecules, and Diseases, 92(), -.
Chicago	Roos D, Van Leeuwen K, Hsu AP, Priel DL, Begtrup A, Brandon R, Rawat A, et al.. "Hematologically Important Mutations: The Autosomal Forms of Chronic Granulomatous Disease (Third Update)." Blood Cells, Molecules, and Diseases 92, no. (2021): -.
Harvard	Roos D et al. (2021) 'Hematologically Important Mutations: The Autosomal Forms of Chronic Granulomatous Disease (Third Update)', Blood Cells, Molecules, and Diseases, 92(), pp. -.
Vancouver	Roos D, Van Leeuwen K, Hsu AP, Priel DL, Begtrup A, Brandon R, et al.. Hematologically Important Mutations: The Autosomal Forms of Chronic Granulomatous Disease (Third Update). Blood Cells, Molecules, and Diseases. 2021;92():-.
BibTex	@article{ author = {Roos D and Van Leeuwen K and Hsu AP and Priel DL and Begtrup A and Brandon R and Rawat A and Vignesh P and Madkaikar M and Stasia MJ and Bakri FG and De Boer M and Roesler J and Koker N and Koker MY and Jakobsen M and Bustamante J and Garciamorato MB and Shephard JLV and Cagdas D and Tezcan I and Sherkat R and Mortaz E and Fayezi A and Shahrooei M and Wolach B and Blancasgalicia L and Kanegane H and Kawai T and Condinoneto A and Vihinen M and Zerbe CS and Holland SM and Malech HL and Gallin JI and Kuhns DB}, title = {Hematologically Important Mutations: The Autosomal Forms of Chronic Granulomatous Disease (Third Update)}, journal = {Blood Cells, Molecules, and Diseases}, volume = {92}, number = {}, pages = {-}, year = {2021} }
RIS	TY - JOUR AU - Roos D AU - Van Leeuwen K AU - Hsu AP AU - Priel DL AU - Begtrup A AU - Brandon R AU - Rawat A AU - Vignesh P AU - Madkaikar M AU - Stasia MJ AU - Bakri FG AU - De Boer M AU - Roesler J AU - Koker N AU - Koker MY AU - Jakobsen M AU - Bustamante J AU - Garciamorato MB AU - Shephard JLV AU - Cagdas D AU - Tezcan I AU - Sherkat R AU - Mortaz E AU - Fayezi A AU - Shahrooei M AU - Wolach B AU - Blancasgalicia L AU - Kanegane H AU - Kawai T AU - Condinoneto A AU - Vihinen M AU - Zerbe CS AU - Holland SM AU - Malech HL AU - Gallin JI AU - Kuhns DB TI - Hematologically Important Mutations: The Autosomal Forms of Chronic Granulomatous Disease (Third Update) JO - Blood Cells, Molecules, and Diseases VL - 92 IS - SP - EP - PY - 2021 ER -

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