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Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis.
Harbort CJ, Soeiro-Pereira PV, von Bernuth H, Kaindl AM, Costa-Carvalho BT, Condino-Neto A, Reichenbach J, Roesler J, Zychlinsky A, Amulic B. Harbort CJ, et al. Among authors: roesler j. Blood. 2015 Dec 24;126(26):2842-51. doi: 10.1182/blood-2015-05-645424. Epub 2015 Oct 21. Blood. 2015. PMID: 26491069 Free PMC article.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).
Roos D, van Leeuwen K, Hsu AP, Priel DL, Begtrup A, Brandon R, Stasia MJ, Bakri FG, Köker N, Köker MY, Madkaika M, de Boer M, Garcia-Morato MB, Shephard JLV, Roesler J, Kanegane H, Kawai T, Di Matteo G, Shahrooei M, Bustamante J, Rawat A, Vignesh P, Mortaz E, Fayezi A, Cagdas D, Tezcan I, Kitcharoensakkul M, Dinauer MC, Meyts I, Wolach B, Condino-Neto A, Zerbe CS, Holland SM, Malech HL, Gallin JI, Kuhns DB. Roos D, et al. Among authors: roesler j. Blood Cells Mol Dis. 2021 Sep;90:102587. doi: 10.1016/j.bcmd.2021.102587. Epub 2021 Jun 2. Blood Cells Mol Dis. 2021. PMID: 34175765 Review.
Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD.
Mauch L, Lun A, O'Gorman MR, Harris JS, Schulze I, Zychlinsky A, Fuchs T, Oelschlägel U, Brenner S, Kutter D, Rösen-Wolff A, Roesler J. Mauch L, et al. Among authors: roesler j. Clin Chem. 2007 May;53(5):890-6. doi: 10.1373/clinchem.2006.083444. Epub 2007 Mar 23. Clin Chem. 2007. PMID: 17384005
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. Roos D, et al. Among authors: roesler j. Blood Cells Mol Dis. 2021 Dec;92:102596. doi: 10.1016/j.bcmd.2021.102596. Epub 2021 Jul 28. Blood Cells Mol Dis. 2021. PMID: 34547651
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. Roos D, et al. Among authors: roesler j. Blood Cells Mol Dis. 2010 Oct 15;45(3):246-65. doi: 10.1016/j.bcmd.2010.07.012. Epub 2010 Aug 21. Blood Cells Mol Dis. 2010. PMID: 20729109 Free PMC article. Review.
197 results