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Page 1
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Among authors: kumararatne ds. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Interferon-gamma receptor deficiency mimicking Langerhans' cell histiocytosis.
Edgar JD, Smyth AE, Pritchard J, Lammas D, Jouanguy E, Hague R, Novelli V, Dempsey S, Sweeney L, Taggart AJ, O'hara D, Casanova JL, Kumararatne DS. Edgar JD, et al. Among authors: kumararatne ds. J Pediatr. 2001 Oct;139(4):600-3. doi: 10.1067/mpd.2001.117068. J Pediatr. 2001. PMID: 11598613
Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity.
Döffinger R, Helbert MR, Barcenas-Morales G, Yang K, Dupuis S, Ceron-Gutierrez L, Espitia-Pinzon C, Barnes N, Bothamley G, Casanova JL, Longhurst HJ, Kumararatne DS. Döffinger R, et al. Among authors: kumararatne ds. Clin Infect Dis. 2004 Jan 1;38(1):e10-4. doi: 10.1086/380453. Epub 2003 Dec 4. Clin Infect Dis. 2004. PMID: 14679469
Genetically determined susceptibility to mycobacterial infection.
Patel SY, Doffinger R, Barcenas-Morales G, Kumararatne DS. Patel SY, et al. Among authors: kumararatne ds. J Clin Pathol. 2008 Sep;61(9):1006-12. doi: 10.1136/jcp.2007.051201. Epub 2008 Mar 6. J Clin Pathol. 2008. PMID: 18326015 Review.
Specific antibody deficiency in children with chronic wet cough.
Lim MT, Jeyarajah K, Jones P, Pandya H, Doffinger R, Kumararatne D, Browning MJ, Gaillard EA. Lim MT, et al. Arch Dis Child. 2012 May;97(5):478-80. doi: 10.1136/archdischild-2011-300691. Epub 2012 Jan 30. Arch Dis Child. 2012. PMID: 22294669
168 results