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Items: 16

1.

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ.

Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. doi: 10.1016/j.bcmd.2010.01.009. Epub 2010 Feb 18. Review.

2.

Chronic granulomatous disease: Clinical, molecular, and therapeutic aspects.

Chiriaco M, Salfa I, Di Matteo G, Rossi P, Finocchi A.

Pediatr Allergy Immunol. 2016 May;27(3):242-53. doi: 10.1111/pai.12527. Epub 2016 Jan 21. Review.

PMID:
26680691
3.

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

Roos D, Kuhns DB, Maddalena A, Roesler J, Lopez JA, Ariga T, Avcin T, de Boer M, Bustamante J, Condino-Neto A, Di Matteo G, He J, Hill HR, Holland SM, Kannengiesser C, Köker MY, Kondratenko I, van Leeuwen K, Malech HL, Marodi L, Nunoi H, Stasia MJ, Ventura AM, Witwer CT, Wolach B, Gallin JI.

Blood Cells Mol Dis. 2010 Oct 15;45(3):246-65. doi: 10.1016/j.bcmd.2010.07.012. Epub 2010 Aug 21. Review.

4.

Genetic and biochemical background of chronic granulomatous disease.

Jurkowska M, Bernatowska E, Bal J.

Arch Immunol Ther Exp (Warsz). 2004 Mar-Apr;52(2):113-20. Review.

PMID:
15179325
5.

[Molecular aspects of chronic granulomatous disease. "the NADPH oxidase complex"].

Morel F.

Bull Acad Natl Med. 2007 Feb;191(2):377-90; discussion 390-2. Review. French.

PMID:
17969555
6.

Molecular basis of the autosomal recessive forms of chronic granulomatous disease.

Curnutte JT.

Immunodefic Rev. 1992;3(2):149-72. Review.

PMID:
1554499
7.

CYBA encoding p22(phox), the cytochrome b558 alpha polypeptide: gene structure, expression, role and physiopathology.

Stasia MJ.

Gene. 2016 Jul 15;586(1):27-35. doi: 10.1016/j.gene.2016.03.050. Epub 2016 Apr 2. Review.

PMID:
27048830
8.

Chronic granulomatous disease: the solving of a clinical riddle at the molecular level.

Curnutte JT.

Clin Immunol Immunopathol. 1993 Jun;67(3 Pt 2):S2-15. Review.

PMID:
8500277
9.

[The NADPH-oxidase complex in chronic granulomatous disease: preliminary description of a cluster in Mérida-Venezuela].

Salmen S, Berrueta L, Heyworth P, Borges L, Hernández M, Muñoz J.

Invest Clin. 1999 Dec;40(4):277-300. Review. Spanish.

PMID:
10666954
10.

Chronic granulomatous disease.

Heyworth PG, Cross AR, Curnutte JT.

Curr Opin Immunol. 2003 Oct;15(5):578-84. Review.

PMID:
14499268
11.

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. doi: 10.1007/s10875-013-9940-z. Epub 2013 Oct 1. Review. Erratum in: J Clin Immunol. 2014 Nov;34(8):1018.

PMID:
24081483
12.

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update).

Cross AR, Noack D, Rae J, Curnutte JT, Heyworth PG.

Blood Cells Mol Dis. 2000 Oct;26(5):561-5. Review. No abstract available.

PMID:
11112388
13.
14.

Molecular diagnosis of chronic granulomatous disease.

Roos D, de Boer M.

Clin Exp Immunol. 2014 Feb;175(2):139-49. doi: 10.1111/cei.12202. Review.

15.
16.

Genetic disorders coupled to ROS deficiency.

O'Neill S, Brault J, Stasia MJ, Knaus UG.

Redox Biol. 2015 Dec;6:135-56. doi: 10.1016/j.redox.2015.07.009. Epub 2015 Jul 17. Review.

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