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Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D, van Leeuwen K, Madkaikar M, Kambli PM, Gupta M, Mathews V, Rawat A, Kuhns DB, Holland SM, de Boer M, Kanegane H, Parvaneh N, Lorenz M, Schwarz K, Klein C, Sherkat R, Jafari M, Wolach B, den Dunnen JT, Kuijpers TW, Köker MY. Roos D, et al. Among authors: wolach b. Blood Cells Mol Dis. 2023 Mar;99:102726. doi: 10.1016/j.bcmd.2023.102726. Epub 2023 Jan 20. Blood Cells Mol Dis. 2023. PMID: 36696755
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: wolach b. 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 (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: wolach b. 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.
Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.
Lev A, Lee YN, Sun G, Hallumi E, Simon AJ, Zrihen KS, Levy S, Beit Halevi T, Papazian M, Shwartz N, Somekh I, Levy-Mendelovich S, Wolach B, Gavrieli R, Vernitsky H, Barel O, Javasky E, Stauber T, Ma CA, Zhang Y, Amariglio N, Rechavi G, Hendel A, Yablonski D, Milner JD, Somech R. Lev A, et al. Among authors: wolach b. J Exp Med. 2021 Mar 1;218(3):e20201062. doi: 10.1084/jem.20201062. J Exp Med. 2021. PMID: 33231617 Free PMC article.
Late diagnosis of chronic granulomatous disease.
Barkai T, Somech R, Broides A, Gavrieli R, Wolach B, Marcus N, Hagin D, Stauber T. Barkai T, et al. Among authors: wolach b. Clin Exp Immunol. 2020 Sep;201(3):297-305. doi: 10.1111/cei.13474. Epub 2020 Jul 13. Clin Exp Immunol. 2020. PMID: 32506450 Free PMC article.
Leucocyte adhesion deficiency-A multicentre national experience.
Wolach B, Gavrieli R, Wolach O, Stauber T, Abuzaitoun O, Kuperman A, Amir Y, Stepensky P, Somech R, Etzioni A. Wolach B, et al. Eur J Clin Invest. 2019 Feb;49(2):e13047. doi: 10.1111/eci.13047. Epub 2019 Jan 4. Eur J Clin Invest. 2019. PMID: 30412664
169 results