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

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.

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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 -

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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Abstract