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JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
Del Bel KL, Ragotte RJ, Saferali A, Lee S, Vercauteren SM, Mostafavi SA, Schreiber RA, Prendiville JS, Phang MS, Halparin J, Au N, Dean JM, Priatel JJ, Jewels E, Junker AK, Rogers PC, Seear M, McKinnon ML, Turvey SE. Del Bel KL, et al. Among authors: prendiville js. J Allergy Clin Immunol. 2017 Jun;139(6):2016-2020.e5. doi: 10.1016/j.jaci.2016.12.957. Epub 2017 Jan 19. J Allergy Clin Immunol. 2017. PMID: 28111307 No abstract available.
Combined immunodeficiency associated with homozygous MALT1 mutations.
McKinnon ML, Rozmus J, Fung SY, Hirschfeld AF, Del Bel KL, Thomas L, Marr N, Martin SD, Marwaha AK, Priatel JJ, Tan R, Senger C, Tsang A, Prendiville J, Junker AK, Seear M, Schultz KR, Sly LM, Holt RA, Patel MS, Friedman JM, Turvey SE. McKinnon ML, et al. Among authors: prendiville j. J Allergy Clin Immunol. 2014 May;133(5):1458-62, 1462.e1-7. doi: 10.1016/j.jaci.2013.10.045. Epub 2013 Dec 12. J Allergy Clin Immunol. 2014. PMID: 24332264 Clinical Trial. No abstract available.
The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus.
Ragotte RJ, Dhanrajani A, Pleydell-Pearce J, Del Bel KL, Tarailo-Graovac M, van Karnebeek C, Terry J, Senger C, McKinnon ML, Seear M, Prendiville JS, Tucker LB, Houghton K, Cabral DA, Guzman J, Petty RE, Brown KL, Tekano J, Wu J, Morishita KA, Turvey SE. Ragotte RJ, et al. Among authors: prendiville js. Clin Immunol. 2017 Feb;175:143-146. doi: 10.1016/j.clim.2016.12.006. Epub 2016 Dec 31. Clin Immunol. 2017. PMID: 28043923
Recurrent sterile abscesses in a case of X-linked neutropenia.
Biggs CM, Modi B, Steinraths M, Del Bel K, Pourshahnazari P, Griffiths C, Forrest DM, Prendiville J, Dutz JP, Turvey SE, Cameron SB. Biggs CM, et al. Among authors: prendiville j. Pediatr Dermatol. 2020 Jul;37(4):742-744. doi: 10.1111/pde.14146. Epub 2020 Mar 23. Pediatr Dermatol. 2020. PMID: 32202653
Old challenges and new directions in pediatric rheumatology.
Cabral DA, Laxer RM, Schrader J, Turvey S, Stevens A, Yeung RS, Foster HE, Emery H, Prendiville J, Tucker LB, Foeldvari I, Sherry DD, Klinkhoff AB, Wallace CA, Houghton K. Cabral DA, et al. Among authors: prendiville j. J Rheumatol. 2006 Jan;33(1):173-84. J Rheumatol. 2006. PMID: 16395765
Rheumatic manifestations of Bartonella infection in 2 children.
Al-Matar MJ, Petty RE, Cabral DA, Tucker LB, Peyvandi B, Prendiville J, Forbes J, Cairns R, Rothstein R. Al-Matar MJ, et al. Among authors: prendiville j. J Rheumatol. 2002 Jan;29(1):184-6. J Rheumatol. 2002. PMID: 11824958
137 results