139 related articles for article (PubMed ID: 33006108)
1. Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB.
Wu EY; Kuehn HS; Rosenzweig SD; Aksentijevich I; McShane DB
J Clin Immunol; 2021 Jan; 41(1):224-226. PubMed ID: 33006108
[No Abstract] [Full Text] [Related]
2. Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect.
Vignesh P; Sharma M; Pilania RK; Shandilya JK; Kaur A; Goel S; Kaur A; Suri D; Rawat A; Dalal A; Sarma AS; Singh S
J Clin Immunol; 2019 Aug; 39(6):611-615. PubMed ID: 31338742
[No Abstract] [Full Text] [Related]
3. Identification of IL2RG and CYBB mutations in two Chinese primary immunodeficiency patients by whole-exome sequencing.
Xu S; Li Q; Wu J; Chen G; Zhu B; Gu W
Immunol Invest; 2018 Apr; 47(3):221-228. PubMed ID: 29388853
[TBL] [Abstract][Full Text] [Related]
4. A Novel CYBB Variant Causing X-Linked Chronic Granulomatous Disease in a Patient with Empyema.
Kitcharoensakkul M; Song Z; Bednarski JJ; Dinauer M
J Clin Immunol; 2021 Jan; 41(1):266-269. PubMed ID: 33090293
[No Abstract] [Full Text] [Related]
5. Male X-chromosome mosaicism leading to carrier phenotype and inheritance of chronic granulomatous disease.
Harris S; Braggins H; van Leeuwen K; Gilmour K; Buckland MS; Roos D; Lowe DM
J Allergy Clin Immunol Pract; 2018; 6(5):1775-1777.e1. PubMed ID: 29410207
[No Abstract] [Full Text] [Related]
6. A novel mutation in CYBB gene in a patient with chronic colitis and recurrent pneumonia due to X-linked chronic granulomatous disease.
Zurro NB; Tavares de Albuquerque JA; França TT; Vendramini P; Arslanian C; Tavares-Scancetti F; Condino-Neto A
Pediatr Blood Cancer; 2018 Dec; 65(12):e27382. PubMed ID: 30094936
[No Abstract] [Full Text] [Related]
7. The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.
Sun J; Wen M; Wang Y; Liu D; Ying W; Wang X
BMC Med Genet; 2017 Nov; 18(1):127. PubMed ID: 29132304
[TBL] [Abstract][Full Text] [Related]
8. Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients.
Kulkarni M; Hule G; de Boer M; van Leeuwen K; Kambli P; Aluri J; Gupta M; Dalvi A; Mhatre S; Taur P; Desai M; Madkaikar M
J Clin Immunol; 2018 Nov; 38(8):898-916. PubMed ID: 30470980
[TBL] [Abstract][Full Text] [Related]
9. A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.
Ben-Farhat K; Ben-Mustapha I; Ben-Ali M; Rouault K; Hamami S; Mekki N; Ben-Chehida A; Larguèche B; Fitouri Z; Abdelmoula S; Khemiri M; Guediche MN; Boukthir S; Barsaoui S; Chemli J; Barbouche MR
J Clin Immunol; 2016 Aug; 36(6):547-54. PubMed ID: 27220316
[TBL] [Abstract][Full Text] [Related]
10. Adult onset X-linked chronic granulomatous disease in a woman patient caused by a de novo mutation in paternal-origin CYBB gene and skewed inactivation of normal maternal X chromosome.
Gono T; Yazaki M; Agematsu K; Matsuda M; Yasui K; Yamaura M; Hidaka F; Mizukami T; Nunoi H; Kubota T; Ikeda S
Intern Med; 2008; 47(11):1053-6. PubMed ID: 18520120
[TBL] [Abstract][Full Text] [Related]
11. Genetic Characteristics, Infectious, and Noninfectious Manifestations of 32 Patients with Chronic Granulomatous Disease.
Aygun D; Koker MY; Nepesov S; Koker N; van Leeuwen K; de Boer M; Kıykım A; Ozsoy S; Cokugras H; Kuijpers T; Roos D; Camcıoglu Y
Int Arch Allergy Immunol; 2020; 181(7):540-550. PubMed ID: 32512560
[TBL] [Abstract][Full Text] [Related]
12. CRISPR-Mediated Knockout of Cybb in NSG Mice Establishes a Model of Chronic Granulomatous Disease for Human Stem-Cell Gene Therapy Transplants.
Sweeney CL; Choi U; Liu C; Koontz S; Ha SK; Malech HL
Hum Gene Ther; 2017 Jul; 28(7):565-575. PubMed ID: 28264583
[TBL] [Abstract][Full Text] [Related]
13. [A case report of chronic granulomatous disease with
Mo HH; Liang XS; Liu LH; Ye LM; Cai SQ; Luo J; Kong JL; Wang K
Zhonghua Jie He He Hu Xi Za Zhi; 2023 May; 46(5):493-497. PubMed ID: 37147812
[TBL] [Abstract][Full Text] [Related]
14. Identification of Cytochrome b-245, beta-chain gene mutations, and clinical presentations in Iranian patients with X-linked chronic granulomatous disease.
Heydari A; Abolnezhadian F; Sadeghi-Shabestari M; Saberi A; Shamsizadeh A; Ghadiri AA; Ghandil P
J Clin Lab Anal; 2021 Feb; 35(2):e23637. PubMed ID: 33098164
[TBL] [Abstract][Full Text] [Related]
15. p47
Hule GP; Kanvinde PR; Kulkarni MA; van Leeuwen K; de Boer M; Bargir UA; Taur PD; Desai MM; Madkaikar MR
J Clin Immunol; 2018 Aug; 38(6):638-641. PubMed ID: 30091057
[No Abstract] [Full Text] [Related]
16. Impaired platelet activation in patients with hereditary deficiency of p47
Carnevale R; Loffredo L; Nocella C; Bartimoccia S; Sanguigni V; Soresina A; Plebani A; Azzari C; Martire B; Pignata C; Violi F
Br J Haematol; 2018 Feb; 180(3):454-456. PubMed ID: 27723093
[No Abstract] [Full Text] [Related]
17. Chronic granulomatous disease: a 25-year patient registry based on a multistep diagnostic procedure, from the referral center for primary immunodeficiencies in Greece.
Raptaki M; Varela I; Spanou K; Tzanoudaki M; Tantou S; Liatsis M; Constantinidou N; Bakoula C; Roos D; Kanariou M
J Clin Immunol; 2013 Nov; 33(8):1302-9. PubMed ID: 24081483
[TBL] [Abstract][Full Text] [Related]
18. Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease.
Teimourian S; Sazgara F; de Boer M; van Leeuwen K; Roos D; Lashkary S; Chavoshzadeh Z; Nabavi M; Bemanian MH; Isaian A
J Pediatr Hematol Oncol; 2018 Jul; 40(5):e268-e272. PubMed ID: 29702544
[TBL] [Abstract][Full Text] [Related]
19. De novo mutation of CYBB gene in a boy presenting as intra-abdominal infection of Burkholderia contaminans: a case report.
Zhao Q; Yin J; Ma J; Liu X; Wu J; Li C
Ital J Pediatr; 2022 Apr; 48(1):55. PubMed ID: 35365205
[TBL] [Abstract][Full Text] [Related]
20. Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay.
Jirapongsananuruk O; Malech HL; Kuhns DB; Niemela JE; Brown MR; Anderson-Cohen M; Fleisher TA
J Allergy Clin Immunol; 2003 Feb; 111(2):374-9. PubMed ID: 12589359
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
