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Page 1
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
Schnappauf O, Zhou Q, Moura NS, Ombrello AK, Michael DG, Deuitch N, Barron K, Stone DL, Hoffmann P, Hershfield M, Applegate C, Bjornsson HT, Beck DB, Witmer PD, Sobreira N, Wohler E, Chiorini JA, Center TAG, Dalgard CL, Center NIS, Kastner DL, Aksentijevich I. Schnappauf O, et al. Among authors: kastner dl. J Clin Immunol. 2020 Aug;40(6):917-926. doi: 10.1007/s10875-020-00817-3. Epub 2020 Jul 8. J Clin Immunol. 2020. PMID: 32638197 Free PMC article.
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, Giustolisi R, Pras M, Ostrer H, Kastner DL. Aksentijevich I, et al. Among authors: kastner dl. Am J Hum Genet. 1999 Apr;64(4):949-62. doi: 10.1086/302327. Am J Hum Genet. 1999. PMID: 10090880 Free PMC article.
TNFRSF1A mutations and autoinflammatory syndromes.
Galon J, Aksentijevich I, McDermott MF, O'Shea JJ, Kastner DL. Galon J, et al. Among authors: kastner dl. Curr Opin Immunol. 2000 Aug;12(4):479-86. doi: 10.1016/s0952-7915(00)00124-2. Curr Opin Immunol. 2000. PMID: 10899034 Review.
The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.
Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, Dean J, Athreya B, Reginato AJ, Henrickson M, Pons-Estel B, O'Shea JJ, Kastner DL. Aksentijevich I, et al. Among authors: kastner dl. Am J Hum Genet. 2001 Aug;69(2):301-14. doi: 10.1086/321976. Epub 2001 Jul 6. Am J Hum Genet. 2001. PMID: 11443543 Free PMC article.
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.
Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P, Rosenberg HF, Austin F, Remmers EF, Balow JE Jr, Rosenzweig S, Komarow H, Shoham NG, Wood G, Jones J, Mangra N, Carrero H, Adams BS, Moore TL, Schikler K, Hoffman H, Lovell DJ, Lipnick R, Barron K, O'Shea JJ, Kastner DL, Goldbach-Mansky R. Aksentijevich I, et al. Among authors: kastner dl. Arthritis Rheum. 2002 Dec;46(12):3340-8. doi: 10.1002/art.10688. Arthritis Rheum. 2002. PMID: 12483741 Free PMC article.
275 results