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Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Aluri J, Bach A, Kaviany S, Chiquetto Paracatu L, Kitcharoensakkul M, Walkiewicz MA, Putnam CD, Shinawi M, Saucier N, Rizzi EM, Harmon MT, Keppel MP, Ritter M, Similuk M, Kulm E, Joyce M, de Jesus AA, Goldbach-Mansky R, Lee YS, Cella M, Kendall PL, Dinauer MC, Bednarski JJ, Bemrich-Stolz C, Canna SW, Abraham SM, Demczko MM, Powell J, Jones SM, Scurlock AM, De Ravin SS, Bleesing JJ, Connelly JA, Rao VK, Schuettpelz LG, Cooper MA. Aluri J, et al. Among authors: kitcharoensakkul m. Blood. 2021 May 6;137(18):2450-2462. doi: 10.1182/blood.2020009620. Blood. 2021. PMID: 33512449 Free PMC article.
A Case of Severe Combined Immunodeficiency Missed by Newborn Screening.
Kitcharoensakkul M, Aluri J, Elsharkawi I, Steed A, Putnam CD, Swayampakula AK, Cooper MA, Bednarski JJ. Kitcharoensakkul M, et al. J Clin Immunol. 2021 Aug;41(6):1352-1355. doi: 10.1007/s10875-021-01020-8. Epub 2021 Mar 12. J Clin Immunol. 2021. PMID: 33712943 Free PMC article. No abstract available.
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: kitcharoensakkul m. 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.
Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.
Mantravadi V, Bednarski JJ, Ritter MA, Gu H, Kolicheski AL, Horner C, Cooper MA, Kitcharoensakkul M. Mantravadi V, et al. Among authors: kitcharoensakkul m. Front Immunol. 2021 Sep 3;12:734096. doi: 10.3389/fimmu.2021.734096. eCollection 2021. Front Immunol. 2021. PMID: 34539671 Free PMC article.
49 results