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

被引：23

作者：

Roos, Dirk ^{[1
]}

van Leeuwen, Karin ^{[1
]}

Hsu, Amy P. ^{[2
]}

Priel, Debra Long ^{[3
]}

Begtrup, Amber ^{[4
]}

Brandon, Rhonda ^{[4
]}

Stasia, Marie Jose ^{[5
,6
]}

Bakri, Faris Ghalib ^{[7
]}

Koker, Nezihe ^{[8
,9
]}

Koker, M. Yavuz ^{[8
]}

Madkaika, Manisha ^{[10
]}

de Boer, Martin ^{[1
]}

Bravo Garcia-Morato, Maria ^{[11
,12
]}

Valdivieso Shephard, Juan Luis ^{[11
]}

Roesler, Joachim ^{[13
]}

Kanegane, Hirokazu ^{[14
]}

Kawai, Toshinao ^{[15
]}

Di Matteo, Gigliola ^{[16
,17
]}

Shahrooei, Mohammad ^{[18
,30
]}

Bustamante, Jacinta ^{[19
]}

Rawat, Amit ^{[20
]}

Vignesh, Pandiarajan ^{[20
]}

Mortaz, Esmaeil ^{[21
]}

Fayezi, Abbas ^{[22
]}

Cagdas, Deniz ^{[23
]}

Tezcan, Ilhan ^{[23
]}

Kitcharoensakkul, Maleewan ^{[24
,25
]}

Dinauer, Mary C. ^{[24
,25
]}

Meyts, Isabelle ^{[26
]}

Wolach, Baruch ^{[27
,28
]}

Condino-Neto, Antonio ^{[29
]}

Zerbe, Christa S. ^{[2
]}

Holland, Steven M. ^{[2
]}

Malech, Harry L. ^{[2
]}

Gallin, John, I ^{[2
]}

Kuhns, Douglas B. ^{[3
]}

机构：

[1] Univ Amsterdam, Med Ctr, Sanquin Res & Landsteiner Lab, Amsterdam, Netherlands

[2] NIAID, NIH, Lab Clin Immunol & Microbiol, 9000 Rockville Pike, Bethesda, MD 20892 USA

[3] Frederick Natl Lab Canc Res, Appl Dev Res Directorate, Neutrophil Monitoring Lab, Frederick, MD USA

[4] GeneDx, Gaithersburg, MD USA

[5] Univ Grenoble Alpes, CEA, CNRS, IBS, F-38000 Grenoble, France

[6] Univ Grenoble Alpes, Chron Granulomatous Dis Diag & Res Ctr CDiReC, Ctr Hosp, F-38000 Grenoble, France

[7] Univ Jordan, Infect Dis & Vaccine Ctr, Amman, Jordan

[8] Erciyes Univ, Sch Med, Dept Immunol, Kayseri, Turkey

[9] Dr Sami Ulus Matern & Childrens Hlth & Dis Traini, Dept Pediat, Ankara, Turkey

[10] ICMR, Natl Inst Immunohaematol, 13th Floor,KEM Hosp Campus, Mumbai 400012, Maharashtra, India

[11] La Paz Univ Hosp, IdiPaz, Dept Immunol, Madrid, Spain

[12] Ctr Biomed Network Res Rare Dis CIBERER U767, Madrid, Spain

[13] Univ Hosp Carl Gustav Carus, Dept Pediat, Dresden, Germany

[14] Tokyo Med & Dent Univ TMDU, Grad Sch Med & Dent Sci, Dept Child Hlth & Dev, Bunkyo Ku, 1-5-45 Yushima, Tokyo 1138519, Japan

[15] Natl Ctr Child Hlth & Dev, Div Immunol, Setagaya Ku, 2-10-1 Okura, Tokyo 1578535, Japan

[16] Univ Roma Tor Vergata, Dept Syst Med, Rome, Italy

[17] Bambino Gesu Pediat Hosp, Res Unit Primary Immunodeficiencies, Immune & Infect Dis Div, Acad Dept Pediat,IRCCS, Rome, Italy

[18] Specialized Immunol Lab Dr Shahrooei, Ahvaz, Iran

[19] Rene Descartes Univ, INSERM, Lab Human Genet Infect Dis, Necker Med Sch, U550, Paris, France

[20] Postgrad Inst Med Educ & Res, Adv Paediat Ctr, Dept Paediat, Paediat Allergy Immunol Unit, Chandigarh, India

[21] Shahid Beheshti Univ Med Sci, Sch Med, Dept Immunol, Tehran, Iran

[22] Ahvaz Jundishapur Univ Med Sci, Sch Med, Dept Allergy & Clin Immunol, Ahvaz, Iran

[23] Hacettepe Univ, Fac Med, Dept Pediat, Sect Pediat Immunol, TR-06100 Ankara, Turkey

[24] Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA

[25] St Louis Childrens Hosp, St Louis, MO 63178 USA

[26] Katholieke Univ Leuven, Lab Inborn Errors Immun, UZ Leuven, Dept Microbiol Immunol & Transplantat, Leuven, Belgium

[27] Meir Med Ctr, Dept Pediat, Kefar Sava, Israel

[28] Meir Med Ctr, Lab Leukocyte Funct, Kefar Sava, Israel

[29] Univ Sao Paulo, Inst Biomed Sci, Dept Immunol, Sao Paulo, Brazil

[30] Katholieke Univ Leuven, Dept Microbiol & Immunol, Clin & Diagnost Immunol, Leuven, Belgium

来源：

BLOOD CELLS MOLECULES AND DISEASES | 2021年 / 90卷

基金：

美国国家卫生研究院;

关键词：

gp91(phox); Chronic granulomatous disease; Mutation; CYBB; G6PD; NADPH oxidase; X-linked disease; STEM-CELL TRANSPLANTATION; CHRONIC NONSPHEROCYTIC ANEMIA; SINGLE-CENTER EXPERIENCE; GENETIC-ANALYSIS; CYBB GENE; PRIMARY IMMUNODEFICIENCY; INCREASED SUSCEPTIBILITY; FLOW-CYTOMETRY; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; GRANULOCYTE DYSFUNCTION;

D O I：

10.1016/j.bcmd.2021.102587

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：36

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