Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)

Dirk Roos; Karin van Leeuwen; Amy P. Hsu; Debra Long Priel; Amber Begtrup; Rhonda Brandon; Marie José Stasia; Faris Ghalib Bakri; Nezihe Köker; M. Yavuz Köker; Manisha Madkaika; Martin de Boer; Maria Bravo Garcia-Morato; Juan Luis Valdivieso Shephard; Joachim Roesler; Hirokazu Kanegane; Toshinao Kawai; Gigliola Di Matteo; Mohammad Shahrooei; Jacinta Bustamante; Amit Rawat; Pandiarajan Vignesh; Esmaeil Mortaz; Abbas Fayezi; Deniz Cagdas; Ilhan Tezcan; Maleewan Kitcharoensakkul; Mary C. Dinauer; Isabelle Meyts; Baruch Wolach; Antonio Condino-Neto; Christa S. Zerbe; Steven M. Holland; Harry L. Malech; John I. Gallin; Douglas B. Kuhns

doi:10.1016/j.bcmd.2021.102587

Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)

Dirk Roos, Karin van Leeuwen, Amy P. Hsu, Debra Long Priel, Amber Begtrup, Rhonda Brandon, Marie José Stasia, Faris Ghalib Bakri, Nezihe Köker, M. Yavuz Köker, Manisha Madkaika, Martin de Boer, Maria Bravo Garcia-Morato, Juan Luis Valdivieso Shephard, Joachim Roesler, Hirokazu Kanegane, Toshinao Kawai, Gigliola Di Matteo, Mohammad Shahrooei, Jacinta BustamanteAmit Rawat, Pandiarajan Vignesh, Esmaeil Mortaz, Abbas Fayezi, Deniz Cagdas, Ilhan Tezcan, Maleewan Kitcharoensakkul, Mary C. Dinauer, Isabelle Meyts, Baruch Wolach, Antonio Condino-Neto, Christa S. Zerbe, Steven M. Holland, Harry L. Malech, John I. Gallin, Douglas B. Kuhns

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

Abstract

Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe bacterial and fungal infections. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide and subsequently formed other reactive oxygen species (ROS) are instrumental in killing phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91^phox, also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients in Europe and in about 20% in countries with a high ratio of parental consanguinity. This article lists all mutations identified in CYBB and should therefore help in genetic counseling of X-CGD patients' families. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of disease-causing mutations. In addition, we also include some mutations in G6PD, the gene on the X chromosome that encodes glucose-6-phosphate dehydrogenase, because inactivity of this enzyme may lead to shortage of NADPH and thus to insufficient activity of NADPH oxidase. Severe G6PD deficiency can induce CGD-like symptoms.

Original language	English
Article number	102587
Journal	Blood Cells, Molecules, and Diseases
Volume	90
DOIs	https://doi.org/10.1016/j.bcmd.2021.102587
State	Published - Sep 2021

Keywords

CYBB
Chronic granulomatous disease
G6PD
Mutation
NADPH oxidase
X-linked disease
gp91

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10.1016/j.bcmd.2021.102587

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Roos, D., van Leeuwen, K., Hsu, A. P., Priel, D. L., Begtrup, A., Brandon, R., Stasia, M. J., Bakri, F. G., Köker, N., Köker, M. Y., Madkaika, M., de Boer, M., Garcia-Morato, M. B., Shephard, J. L. V., Roesler, J., Kanegane, H., Kawai, T., Di Matteo, G., Shahrooei, M., ... Kuhns, D. B. (2021). Hematologically important mutations: X-linked chronic granulomatous disease (fourth update). Blood Cells, Molecules, and Diseases, 90, [102587]. https://doi.org/10.1016/j.bcmd.2021.102587

@article{10af1372e43f4f2e88cf00eea660239a,

title = "Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)",

abstract = "Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe bacterial and fungal infections. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide and subsequently formed other reactive oxygen species (ROS) are instrumental in killing phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91phox, also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients in Europe and in about 20% in countries with a high ratio of parental consanguinity. This article lists all mutations identified in CYBB and should therefore help in genetic counseling of X-CGD patients' families. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of disease-causing mutations. In addition, we also include some mutations in G6PD, the gene on the X chromosome that encodes glucose-6-phosphate dehydrogenase, because inactivity of this enzyme may lead to shortage of NADPH and thus to insufficient activity of NADPH oxidase. Severe G6PD deficiency can induce CGD-like symptoms.",

keywords = "CYBB, Chronic granulomatous disease, G6PD, Mutation, NADPH oxidase, X-linked disease, gp91",

author = "Dirk Roos and {van Leeuwen}, Karin and Hsu, {Amy P.} and Priel, {Debra Long} and Amber Begtrup and Rhonda Brandon and Stasia, {Marie Jos{\'e}} and Bakri, {Faris Ghalib} and Nezihe K{\"o}ker and K{\"o}ker, {M. Yavuz} and Manisha Madkaika and {de Boer}, Martin and Garcia-Morato, {Maria Bravo} and Shephard, {Juan Luis Valdivieso} and Joachim Roesler and Hirokazu Kanegane and Toshinao Kawai and {Di Matteo}, Gigliola and Mohammad Shahrooei and Jacinta Bustamante and Amit Rawat and Pandiarajan Vignesh and Esmaeil Mortaz and Abbas Fayezi and Deniz Cagdas and Ilhan Tezcan and Maleewan Kitcharoensakkul and Dinauer, {Mary C.} and Isabelle Meyts and Baruch Wolach and Antonio Condino-Neto and Zerbe, {Christa S.} and Holland, {Steven M.} and Malech, {Harry L.} and Gallin, {John I.} and Kuhns, {Douglas B.}",

note = "Funding Information: I.M. is a senior clinical investigator at FWO Vlaanderen, and by a KU Leuven C1 Grant C16/18/007 , by a VIB GC PID Grant, by a FWO Grant G0C8517N (Cold Case) supported by CSL Behring Chair of Primary Immunodeficiencies, and by the Jeffrey Modell Foundation . Funding Information: M.J.S. is grateful for support from the University Grenoble Alpes (UGA) (AGIR program 2014); the Interreg France-Suisse [Programme de Cooperation Territoriale Europ{\'e}enne, Fond Europ{\'e}en de D{\'e}veloppement Regional (FEDER), 2017–2019], the Delegation for Clinical Research and Innovations, University Hospital Grenoble Alpes (CHUGA) (DRCI, Rementips project 2014). Funding Information: At the National Institutes of Health, peripheral blood samples were obtained upon informed consent, according to protocols 93-I-0119 and 05-I-0213, approved by the National Institutes of Health Institutional Review Board. Funding for this study was provided in part by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health and in part with federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. M.J.S. is grateful for support from the University Grenoble Alpes (UGA) (AGIR program 2014); the Interreg France-Suisse [Programme de Cooperation Territoriale Europ?enne, Fond Europ?en de D?veloppement Regional (FEDER), 2017?2019], the Delegation for Clinical Research and Innovations, University Hospital Grenoble Alpes (CHUGA) (DRCI, Rementips project 2014). I.M. is a senior clinical investigator at FWO Vlaanderen, and by a KU Leuven C1 Grant C16/18/007, by a VIB GC PID Grant, by a FWO Grant G0C8517N (Cold Case) supported by CSL Behring Chair of Primary Immunodeficiencies, and by the Jeffrey Modell Foundation. Funding Information: At the National Institutes of Health, peripheral blood samples were obtained upon informed consent, according to protocols 93-I-0119 and 05-I-0213, approved by the National Institutes of Health Institutional Review Board. Funding for this study was provided in part by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases , National Institutes of Health and in part with federal funds from the National Cancer Institute , National Institutes of Health , under Contract No. HHSN261200800001E . The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. Publisher Copyright: {\textcopyright} 2021 Elsevier Inc.",

year = "2021",

month = sep,

doi = "10.1016/j.bcmd.2021.102587",

language = "English",

volume = "90",

journal = "Blood Cells, Molecules, and Diseases",

issn = "1079-9796",

}

Roos, D, van Leeuwen, K, Hsu, AP, Priel, DL, Begtrup, A, Brandon, R, Stasia, MJ, Bakri, FG, Köker, N, Köker, MY, Madkaika, M, de Boer, M, Garcia-Morato, MB, Shephard, JLV, Roesler, J, Kanegane, H, Kawai, T, Di Matteo, G, Shahrooei, M, Bustamante, J, Rawat, A, Vignesh, P, Mortaz, E, Fayezi, A, Cagdas, D, Tezcan, I, Kitcharoensakkul, M , Dinauer, MC, Meyts, I, Wolach, B, Condino-Neto, A, Zerbe, CS, Holland, SM, Malech, HL, Gallin, JI & Kuhns, DB 2021, 'Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)', Blood Cells, Molecules, and Diseases, vol. 90, 102587. https://doi.org/10.1016/j.bcmd.2021.102587

TY - JOUR

T1 - Hematologically important mutations

T2 - X-linked chronic granulomatous disease (fourth update)

AU - Roos, Dirk

AU - van Leeuwen, Karin

AU - Hsu, Amy P.

AU - Priel, Debra Long

AU - Begtrup, Amber

AU - Brandon, Rhonda

AU - Stasia, Marie José

AU - Bakri, Faris Ghalib

AU - Köker, Nezihe

AU - Köker, M. Yavuz

AU - Madkaika, Manisha

AU - de Boer, Martin

AU - Garcia-Morato, Maria Bravo

AU - Shephard, Juan Luis Valdivieso

AU - Roesler, Joachim

AU - Kanegane, Hirokazu

AU - Kawai, Toshinao

AU - Di Matteo, Gigliola

AU - Shahrooei, Mohammad

AU - Bustamante, Jacinta

AU - Rawat, Amit

AU - Vignesh, Pandiarajan

AU - Mortaz, Esmaeil

AU - Fayezi, Abbas

AU - Cagdas, Deniz

AU - Tezcan, Ilhan

AU - Kitcharoensakkul, Maleewan

AU - Dinauer, Mary C.

AU - Meyts, Isabelle

AU - Wolach, Baruch

AU - Condino-Neto, Antonio

AU - Zerbe, Christa S.

AU - Holland, Steven M.

AU - Malech, Harry L.

AU - Gallin, John I.

AU - Kuhns, Douglas B.

N1 - Funding Information: I.M. is a senior clinical investigator at FWO Vlaanderen, and by a KU Leuven C1 Grant C16/18/007 , by a VIB GC PID Grant, by a FWO Grant G0C8517N (Cold Case) supported by CSL Behring Chair of Primary Immunodeficiencies, and by the Jeffrey Modell Foundation . Funding Information: M.J.S. is grateful for support from the University Grenoble Alpes (UGA) (AGIR program 2014); the Interreg France-Suisse [Programme de Cooperation Territoriale Européenne, Fond Européen de Développement Regional (FEDER), 2017–2019], the Delegation for Clinical Research and Innovations, University Hospital Grenoble Alpes (CHUGA) (DRCI, Rementips project 2014). Funding Information: At the National Institutes of Health, peripheral blood samples were obtained upon informed consent, according to protocols 93-I-0119 and 05-I-0213, approved by the National Institutes of Health Institutional Review Board. Funding for this study was provided in part by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health and in part with federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. M.J.S. is grateful for support from the University Grenoble Alpes (UGA) (AGIR program 2014); the Interreg France-Suisse [Programme de Cooperation Territoriale Europ?enne, Fond Europ?en de D?veloppement Regional (FEDER), 2017?2019], the Delegation for Clinical Research and Innovations, University Hospital Grenoble Alpes (CHUGA) (DRCI, Rementips project 2014). I.M. is a senior clinical investigator at FWO Vlaanderen, and by a KU Leuven C1 Grant C16/18/007, by a VIB GC PID Grant, by a FWO Grant G0C8517N (Cold Case) supported by CSL Behring Chair of Primary Immunodeficiencies, and by the Jeffrey Modell Foundation. Funding Information: At the National Institutes of Health, peripheral blood samples were obtained upon informed consent, according to protocols 93-I-0119 and 05-I-0213, approved by the National Institutes of Health Institutional Review Board. Funding for this study was provided in part by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases , National Institutes of Health and in part with federal funds from the National Cancer Institute , National Institutes of Health , under Contract No. HHSN261200800001E . The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. Publisher Copyright: © 2021 Elsevier Inc.

PY - 2021/9

Y1 - 2021/9

N2 - Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe bacterial and fungal infections. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide and subsequently formed other reactive oxygen species (ROS) are instrumental in killing phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91phox, also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients in Europe and in about 20% in countries with a high ratio of parental consanguinity. This article lists all mutations identified in CYBB and should therefore help in genetic counseling of X-CGD patients' families. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of disease-causing mutations. In addition, we also include some mutations in G6PD, the gene on the X chromosome that encodes glucose-6-phosphate dehydrogenase, because inactivity of this enzyme may lead to shortage of NADPH and thus to insufficient activity of NADPH oxidase. Severe G6PD deficiency can induce CGD-like symptoms.

AB - Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe bacterial and fungal infections. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide and subsequently formed other reactive oxygen species (ROS) are instrumental in killing phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91phox, also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients in Europe and in about 20% in countries with a high ratio of parental consanguinity. This article lists all mutations identified in CYBB and should therefore help in genetic counseling of X-CGD patients' families. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of disease-causing mutations. In addition, we also include some mutations in G6PD, the gene on the X chromosome that encodes glucose-6-phosphate dehydrogenase, because inactivity of this enzyme may lead to shortage of NADPH and thus to insufficient activity of NADPH oxidase. Severe G6PD deficiency can induce CGD-like symptoms.

KW - CYBB

KW - Chronic granulomatous disease

KW - G6PD

KW - Mutation

KW - NADPH oxidase

KW - X-linked disease

KW - gp91

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U2 - 10.1016/j.bcmd.2021.102587

DO - 10.1016/j.bcmd.2021.102587

M3 - Article

C2 - 34175765

AN - SCOPUS:85106913651

SN - 1079-9796

VL - 90

JO - Blood Cells, Molecules, and Diseases

JF - Blood Cells, Molecules, and Diseases

M1 - 102587

ER -

Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)

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