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Page 1
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: putnam cd. 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. Among authors: putnam cd. 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.
Mutations of complement factor I and potential mechanisms of neuroinflammation in acute hemorrhagic leukoencephalitis.
Broderick L, Gandhi C, Mueller JL, Putnam CD, Shayan K, Giclas PC, Peterson KS, Aceves SS, Sheets RM, Peterson BM, Newbury RO, Hoffman HM, Bastian JF. Broderick L, et al. Among authors: putnam cd. J Clin Immunol. 2013 Jan;33(1):162-71. doi: 10.1007/s10875-012-9767-z. Epub 2012 Aug 29. J Clin Immunol. 2013. PMID: 22926405 Free PMC article. Review.
Mutations in topoisomerase IIβ result in a B cell immunodeficiency.
Broderick L, Yost S, Li D, McGeough MD, Booshehri LM, Guaderrama M, Brydges SD, Kucharova K, Patel NC, Harr M, Hakonarson H, Zackai E, Cowell IG, Austin CA, Hügle B, Gebauer C, Zhang J, Xu X, Wang J, Croker BA, Frazer KA, Putnam CD, Hoffman HM. Broderick L, et al. Among authors: putnam cd. Nat Commun. 2019 Aug 13;10(1):3644. doi: 10.1038/s41467-019-11570-6. Nat Commun. 2019. PMID: 31409799 Free PMC article.
Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity.
Brydges SD, Mueller JL, McGeough MD, Pena CA, Misaghi A, Gandhi C, Putnam CD, Boyle DL, Firestein GS, Horner AA, Soroosh P, Watford WT, O'Shea JJ, Kastner DL, Hoffman HM. Brydges SD, et al. Among authors: putnam cd. Immunity. 2009 Jun 19;30(6):875-87. doi: 10.1016/j.immuni.2009.05.005. Epub 2009 Jun 4. Immunity. 2009. PMID: 19501000 Free PMC article.
Disease-associated mutations in topoisomerase IIβ result in defective NK cells.
Broderick L, Clay GM, Blum RH, Liu Y, McVicar R, Papes F, Booshehri LM, Cowell IG, Austin CA, Putnam CD, Kaufman DS. Broderick L, et al. Among authors: putnam cd. J Allergy Clin Immunol. 2022 Jun;149(6):2171-2176.e3. doi: 10.1016/j.jaci.2021.12.792. Epub 2022 Jan 19. J Allergy Clin Immunol. 2022. PMID: 35063500 Free article.
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