137 related articles for article (PubMed ID: 37055004)
1. Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype.
Chiriaco M; De Matteis A; Cifaldi C; Di Matteo G; Rivalta B; Passarelli C; Perrone C; Novelli A; De Benedetti F; Insalaco A; Palma P; Finocchi A
Clin Immunol; 2023 Jun; 251():109316. PubMed ID: 37055004
[TBL] [Abstract][Full Text] [Related]
2. A novel mutation in EROS (CYBC1) causes chronic granulomatous disease.
Mortimer PM; Nichols E; Thomas J; Shanbhag R; Singh N; Coomber EL; Malik TH; Pickering MC; Randzavola L; Rae W; Bhattad S; Thomas DC
Clin Immunol; 2023 Oct; 255():109761. PubMed ID: 37673227
[TBL] [Abstract][Full Text] [Related]
3. First Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency.
Bhattarai D; Banday AZ; Tenzin P; Nisar R; Patra PK
J Clin Immunol; 2024 Jun; 44(7):149. PubMed ID: 38896305
[TBL] [Abstract][Full Text] [Related]
4. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
Arnadottir GA; Norddahl GL; Gudmundsdottir S; Agustsdottir AB; Sigurdsson S; Jensson BO; Bjarnadottir K; Theodors F; Benonisdottir S; Ivarsdottir EV; Oddsson A; Kristjansson RP; Sulem G; Alexandersson KF; Juliusdottir T; Gudmundsson KR; Saemundsdottir J; Jonasdottir A; Jonasdottir A; Sigurdsson A; Manzanillo P; Gudjonsson SA; Thorisson GA; Magnusson OT; Masson G; Orvar KB; Holm H; Bjornsson S; Arngrimsson R; Gudbjartsson DF; Thorsteinsdottir U; Jonsdottir I; Haraldsson A; Sulem P; Stefansson K
Nat Commun; 2018 Oct; 9(1):4447. PubMed ID: 30361506
[TBL] [Abstract][Full Text] [Related]
5. Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).
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; Köker N; Köker MY; Jakobsen M; Bustamante J; Garcia-Morato MB; Shephard JLV; Cagdas D; Tezcan I; Sherkat R; Mortaz E; Fayezi A; Shahrooei M; Wolach B; Blancas-Galicia L; Kanegane H; Kawai T; Condino-Neto A; Vihinen M; Zerbe CS; Holland SM; Malech HL; Gallin JI; Kuhns DB
Blood Cells Mol Dis; 2021 Dec; 92():102596. PubMed ID: 34547651
[TBL] [Abstract][Full Text] [Related]
6. Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.
Bakri FG; Mollin M; Beaumel S; Vigne B; Roux-Buisson N; Al-Wahadneh AM; Alzyoud RM; Hayajneh WA; Daoud AK; Shukair MEA; Karadshe MF; Sarhan MM; Al-Ramahi JAW; Fauré J; Rendu J; Stasia MJ
Front Immunol; 2021; 12():639226. PubMed ID: 33746979
[TBL] [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. 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]
9. NAPDH Oxidase-Specific Flow Cytometry Allows for Rapid Genetic Triage and Classification of Novel Variants in Chronic Granulomatous Disease.
Sacco KA; Smith MJ; Bahna SL; Buchbinder D; Burkhardt J; Cooper MA; Hartog NL; Kobrynski L; Patel KP; Abraham RS
J Clin Immunol; 2020 Jan; 40(1):191-202. PubMed ID: 31813112
[TBL] [Abstract][Full Text] [Related]
10. Chronic Granulomatous Disease: a Comprehensive Review.
Yu HH; Yang YH; Chiang BL
Clin Rev Allergy Immunol; 2021 Oct; 61(2):101-113. PubMed ID: 32524254
[TBL] [Abstract][Full Text] [Related]
11. Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
Köker MY; Camcıoğlu Y; van Leeuwen K; Kılıç SŞ; Barlan I; Yılmaz M; Metin A; de Boer M; Avcılar H; Patıroğlu T; Yıldıran A; Yeğin O; Tezcan I; Sanal Ö; Roos D
J Allergy Clin Immunol; 2013 Nov; 132(5):1156-1163.e5. PubMed ID: 23910690
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Novel NCF2 Mutation Causing Chronic Granulomatous Disease.
Roth IL; Salamon P; Freund T; Gadot YB; Baron S; Hershkovitz T; Shefler I; Hanna S; Confino-Cohen R; Bentur L; Hagin D
J Clin Immunol; 2020 Oct; 40(7):977-986. PubMed ID: 32666379
[TBL] [Abstract][Full Text] [Related]
14. Clinical and molecular findings of chronic granulomatous disease in Oman: family studies.
Al-Zadjali S; Al-Tamemi S; Elnour I; AlKindi S; Lapoumeroulie C; Al-Maamari S; Pathare A; Dennison D; Krishnamoorthy R
Clin Genet; 2015 Feb; 87(2):185-9. PubMed ID: 24446915
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).
Wolach B; Gavrieli R; de Boer M; van Leeuwen K; Wolach O; Grisaru-Soen G; Broides A; Etzioni A; Somech R; Roos D
J Clin Immunol; 2018 Feb; 38(2):193-203. PubMed ID: 29411231
[TBL] [Abstract][Full Text] [Related]
17. HSCT in two brothers with CGD arising from mutations in CYBC1 corrects the defect in neutrophil function.
Perez-Heras I; Tsilifis C; Slatter MA; Brynjólfsson SF; Haraldsson Á; Gennery AR
Clin Immunol; 2021 Aug; 229():108799. PubMed ID: 34280579
[TBL] [Abstract][Full Text] [Related]
18. Genetic and molecular findings of 38 Iranian patients with chronic granulomatous disease caused by p47-phox defect.
Tajik S; Badalzadeh M; Fazlollahi MR; Houshmand M; Bazargan N; Movahedi M; Mahlouji Rad M; Mahdaviani SA; Mamishi S; Khotaei GT; Mansouri D; Zandieh F; Pourpak Z
Scand J Immunol; 2019 Jul; 90(1):e12767. PubMed ID: 30963593
[TBL] [Abstract][Full Text] [Related]
19. Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase.
Noack D; Rae J; Cross AR; Muñoz J; Salmen S; Mendoza JA; Rossi N; Curnutte JT; Heyworth PG
Hum Genet; 1999 Nov; 105(5):460-7. PubMed ID: 10598813
[TBL] [Abstract][Full Text] [Related]
20. Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox.
Patiño PJ; Rae J; Noack D; Erickson R; Ding J; de Olarte DG; Curnutte JT
Blood; 1999 Oct; 94(7):2505-14. PubMed ID: 10498624
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
