CYBB c.388C>T ;(p.R130*)

Variant ID: X-37652968-C-T

NM_000397.3(CYBB):c.388C>T;(p.R130*)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


A horse or a zebra? Unusual manifestations of common cutaneous infections in primary immunodeficiency pediatric patients.

Frontiers In Pediatrics
Ollech, Ayelet A; Simon, Amos J AJ; Lev, Atar A; Stauber, Tali T; Sherman, Gilad G; Solomon, Michal M; Barzilai, Aviv A; Somech, Raz R; Greenberger, Shoshana S
Publication Date: 2023

Variant appearance in text: CYBB: Arg130Ter
PubMed Link: 36950172
Variant Present in the following documents:
  • Main text
  • fped-11-1103726.pdf
View BVdb publication page



Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Frontiers In Immunology
Chan, Koon-Wing KW; Wong, Chung-Yin CY; Leung, Daniel D; Yang, Xingtian X; Fok, Susanna F S SFS; Mak, Priscilla H S PHS; Yao, Lei L; Ma, Wen W; Mao, Huawei H; Zhao, Xiaodong X; Liang, Weiling W; Singh, Surjit S; Barbouche, Mohamed-Ridha MR; He, Jian-Xin JX; Jiang, Li-Ping LP; Liew, Woei-Kang WK; Le, Minh Huong Thi MHT; Muktiarti, Dina D; Santos-Ocampo, Fatima Johanna FJ; Djidjik, Reda R; Belaid, Brahim B; Ismail, Intan Hakimah IH; Abdul Latiff, Amir Hamzah AH; Lee, Way Seah WS; Chen, Tong-Xin TX; Liu, Jinrong J; Jin, Runming R; Wang, Xiaochuan X; Chien, Yin Hsiu YH; Yu, Hsin-Hui HH; Raj, Dinesh D; Raj, Revathi R; Vaughan, Jenifer J; Urban, Michael M; van den Berg, Sylvia S; Eley, Brian B; Lee, Anselm Chi-Wai AC; Isa, Mas Suhaila MS; Ang, Elizabeth Y EY; Lee, Bee Wah BW; Yeoh, Allen Eng Juh AEJ; Shek, Lynette P LP; Quynh Le, Nguyen Ngoc NN; Nguyen, Van Anh Thi VAT; Phan Nguyen Lien, Anh A; Capulong, Regina D RD; Mallillin, Joanne Michelle JM; Villanueva, Jose Carlo Miguel M JCMM; Camonayan, Karol Anne B KAB; Vera, Michelle De M; Casis-Hao, Roxanne J RJ; Lobo, Rommel Crisenio M RCM; Foronda, Ruby R; Binas, Vicky Wee Eng VWE; Boushaki, Soraya S; Kechout, Nadia N; Phongsamart, Gun G; Wongwaree, Siriporn S; Jiratchaya, Chamnanrua C; Lao-Araya, Mongkol M; Trakultivakorn, Muthita M; Suratannon, Narissara N; Jirapongsananuruk, Orathai O; Chantveerawong, Teerapol T; Kamchaisatian, Wasu W; Chan, Lee Lee LL; Koh, Mia Tuang MT; Wong, Ke Juin KJ; Fong, Siew Moy SM; Thong, Meow-Keong MK; Latiff, Zarina Abdul ZA; Noh, Lokman Mohd LM; de Silva, Rajiva R; Jouhadi, Zineb Z; Al-Saad, Khulood K; Vignesh, Pandiarajan P; Jindal, Ankur Kumar AK; Rawat, Amit A; Gupta, Anju A; Suri, Deepti D; Yang, Jing J; Au, Elaine Yuen-Ling EY; Kwok, Janette Siu-Yin JS; Chan, Siu-Yuen SY; Hui, Wayland Yuk-Fun WY; Chua, Gilbert T GT; Duque, Jaime Rosa JR; Cheong, Kai-Ning KN; Chong, Patrick Chun Yin PCY; Ho, Marco Hok Kung MHK; Lee, Tsz-Leung TL; Wong, Wilfred Hing-Sang WH; Yang, Wanling W; Lee, Pamela P PP; Tu, Wenwei W; Yang, Xi-Qiang XQ; Lau, Yu Lung YL
Publication Date: 2022

Variant appearance in text: CYBB: 388C>T
PubMed Link: 35874699
Variant Present in the following documents:
  • Main text
  • fimmu-13-883446.pdf
View BVdb publication page



Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

Scientific Reports
Rawat, Amit A; Sharma, Madhubala M; Vignesh, Pandiarajan P; Jindal, Ankur Kumar AK; Suri, Deepti D; Das, Jhumki J; Joshi, Vibhu V; Tyagi, Rahul R; Sharma, Jyoti J; Kaur, Gurjit G; Lau, Yu-Lung YL; Imai, Kohsuke K; Nonoyama, Shigeaki S; Lenardo, Michael M; Singh, Surjit S
Publication Date: 2022-06-21

Variant appearance in text: CYBB: Arg130*
PubMed Link: 35729272
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_14522.pdf
View BVdb publication page



Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease.

Frontiers In Immunology
Chiu, Timothy Lok-Hin TL; Leung, Daniel D; Chan, Koon-Wing KW; Yeung, Hok Man HM; Wong, Chung-Yin CY; Mao, Huawei H; He, Jianxin J; Vignesh, Pandiarajan P; Liang, Weiling W; Liew, Woei Kang WK; Jiang, Li-Ping LP; Chen, Tong-Xin TX; Chen, Xiang-Yuan XY; Tao, Yin-Bo YB; Xu, Yong-Bin YB; Yu, Hsin-Hui HH; Terblanche, Alta A; Lung, David Christopher DC; Li, Cheng-Rong CR; Chen, Jing J; Tian, Man M; Eley, Brian B; Yang, Xingtian X; Yang, Jing J; Chiang, Wen Chin WC; Lee, Bee Wah BW; Suri, Deepti D; Rawat, Amit A; Gupta, Anju A; Singh, Surjit S; Wong, Wilfred Hing Sang WHS; Chua, Gilbert T GT; Duque, Jaime Sou Da Rosa JSDR; Cheong, Kai-Ning KN; Chong, Patrick Chun-Yin PC; Ho, Marco Hok-Kung MH; Lee, Tsz-Leung TL; Yang, Wanling W; Lee, Pamela P PP; Lau, Yu Lung YL
Publication Date: 2021

Variant appearance in text: CYBB: 388C>T
PubMed Link: 35140711
Variant Present in the following documents:
  • Main text
  • fimmu-12-803763.pdf
View BVdb publication page



Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Archives Of Disease In Childhood
Dai, Dan D; Mei, Mei M; Hu, Liyuan L; Cao, Yun Y; Wang, Xiaochuan X; Wang, Libo L; Lu, Yulan Y; Yang, Lin L; Dong, Xinran X; Wang, Huijun H; Wu, Bingbing B; Qian, Liling L
Publication Date: 2022-02

Variant appearance in text: CYBB: R130X
PubMed Link: 34134972
Variant Present in the following documents:
  • archdischild-2021-322058supp001.pdf
View BVdb publication page



TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.

Clinical And Experimental Immunology
Dasouki, M M; Jabr, A A; AlDakheel, G G; Elbadaoui, F F; Alazami, A M AM; Al-Saud, B B; Arnaout, R R; Aldhekri, H H; Alotaibi, I I; Al-Mousa, H H; Hawwari, A A
Publication Date: 2020-10

Variant appearance in text: CYBB: R130X
PubMed Link: 32691468
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Nature Communications
Mitchell, Khadijah A KA; Nichols, Noah N; Tang, Wei W; Walling, Jennifer J; Stevenson, Holly H; Pineda, Marbin M; Stefanescu, Roxana R; Edelman, Daniel C DC; Girvin, Andrew T AT; Zingone, Adriana A; Sinha, Sanju S; Bowman, Elise E; Rossi, Emily L EL; Arauz, Rony F RF; Jack Zhu, Yuelin Y; Lack, Justin J; Weingartner, Elizabeth E; Waterfall, Joshua J JJ; Pine, Sharon R SR; Simmons, John J; Meltzer, Paul P; Ryan, Bríd M BM
Publication Date: 2019-12-16

Variant appearance in text: CYBB: 388C>T; R130*
PubMed Link: 31844068
Variant Present in the following documents:
  • 41467_2019_13732_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Driver gene alterations and activated signaling pathways toward malignant progression of gastrointestinal stromal tumors.

Cancer Science
Ohshima, Keiichi K; Fujiya, Keiichi K; Nagashima, Takeshi T; Ohnami, Sumiko S; Hatakeyama, Keiichi K; Urakami, Kenichi K; Naruoka, Akane A; Watanabe, Yuko Y; Moromizato, Sachi S; Shimoda, Yuji Y; Ohnami, Shumpei S; Serizawa, Masakuni M; Akiyama, Yasuto Y; Kusuhara, Masatoshi M; Mochizuki, Tohru T; Sugino, Takashi T; Shiomi, Akio A; Tsubosa, Yasuhiro Y; Uesaka, Katsuhiko K; Terashima, Masanori M; Yamaguchi, Ken K
Publication Date: 2019-12

Variant appearance in text: CYBB: 388C>T; R130*
PubMed Link: 31553483
Variant Present in the following documents:
  • CAS-110-3821-s012.xlsx, sheet 1
View BVdb publication page



Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology
,
Publication Date: 2015-06-26

Variant appearance in text: CYBB: R130X
PubMed Link: 26112015
Variant Present in the following documents:
  • 13059_2015_693_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Clinical characteristics and immunogenetics of BCGosis/BCGitis in Chinese children: a 6 year follow-up study.

Plos One
Ying, Wenjing W; Sun, Jinqiao J; Liu, Danru D; Hui, Xiaoying X; Yu, Yeheng Y; Wang, Jingyi J; Wang, Xiaochuan X
Publication Date: 2014

Variant appearance in text: CYBB: R130X
PubMed Link: 24722620
Variant Present in the following documents:
  • Main text
  • pone.0094485.pdf
View BVdb publication page



Persistence of the bacterial pathogen Granulibacter bethesdensis in chronic granulomatous disease monocytes and macrophages lacking a functional NADPH oxidase.

Journal Of Immunology (Baltimore, Md. : 1950)
Chu, Jessica J; Song, Helen H HH; Zarember, Kol A KA; Mills, Teresa A TA; Gallin, John I JI
Publication Date: 2013-09-15

Variant appearance in text: CGD: 388C>T
PubMed Link: 23956436
Variant Present in the following documents:
  • Main text
View BVdb publication page



Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies.

Clinical And Molecular Allergy : Cma
Abraham, Roshini S RS
Publication Date: 2011-04-09

Variant appearance in text: CGD: R130X
PubMed Link: 21477322
Variant Present in the following documents:
  • Main text
  • 1476-7961-9-6.pdf
View BVdb publication page



Residual NADPH oxidase and survival in chronic granulomatous disease.

The New England Journal Of Medicine
Kuhns, Douglas B DB; Alvord, W Gregory WG; Heller, Theo T; Feld, Jordan J JJ; Pike, Kristen M KM; Marciano, Beatriz E BE; Uzel, Gulbu G; DeRavin, Suk See SS; Priel, Debra A Long DA; Soule, Benjamin P BP; Zarember, Kol A KA; Malech, Harry L HL; Holland, Steven M SM; Gallin, John I JI
Publication Date: 2010-12-30

Variant appearance in text:
PubMed Link: 21190454
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Blood Cells, Molecules & Diseases
Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI
Publication Date: 2010-10-15

Variant appearance in text: CYBB: 388C>T
PubMed Link: 20729109
Variant Present in the following documents:
  • Main text
View BVdb publication page