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Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature.
Tahata S, Raymond K, Quade M, Barnes S, Boyer S, League S, Kumanovics A, Abraham R, Jacob E, Menon P, Morava E. Tahata S, et al. Among authors: kumanovics a. Am J Med Genet A. 2022 Jul;188(7):2005-2018. doi: 10.1002/ajmg.a.62737. Epub 2022 Mar 26. Am J Med Genet A. 2022. PMID: 35338746 Review.
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.
Chen K, Coonrod EM, Kumánovics A, Franks ZF, Durtschi JD, Margraf RL, Wu W, Heikal NM, Augustine NH, Ridge PG, Hill HR, Jorde LB, Weyrich AS, Zimmerman GA, Gundlapalli AV, Bohnsack JF, Voelkerding KV. Chen K, et al. Among authors: kumanovics a. Am J Hum Genet. 2013 Nov 7;93(5):812-24. doi: 10.1016/j.ajhg.2013.09.009. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140114 Free PMC article.
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM. Swoboda KJ, et al. Among authors: kumanovics a. Am J Med Genet A. 2014 Jan;164A(1):17-28. doi: 10.1002/ajmg.a.36189. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259288 Free PMC article.
Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1.
Sriaroon P, Chang Y, Ujhazi B, Csomos K, Joshi HR, Zhou Q, Close DW, Walter JE, Kumánovics A. Sriaroon P, et al. Among authors: kumanovics a. Front Pediatr. 2019 Apr 24;7:139. doi: 10.3389/fped.2019.00139. eCollection 2019. Front Pediatr. 2019. PMID: 31069201 Free PMC article.
A Toolkit and Framework for Optimal Laboratory Evaluation of Individuals with Suspected Primary Immunodeficiency.
Knight V, Heimall JR, Chong H, Nandiwada SL, Chen K, Lawrence MG, Sadighi Akha AA, Kumánovics A, Jyonouchi S, Ngo SY, Vinh DC, Hagin D, Forbes Satter LR, Marsh RA, Chiang SCC, Willrich MAV, Frazer-Abel AA, Rider NL. Knight V, et al. Among authors: kumanovics a. J Allergy Clin Immunol Pract. 2021 Sep;9(9):3293-3307.e6. doi: 10.1016/j.jaip.2021.05.004. Epub 2021 May 24. J Allergy Clin Immunol Pract. 2021. PMID: 34033983 Review.
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD. Walter JE, et al. Among authors: kumanovics a. J Clin Invest. 2015 Nov 2;125(11):4135-48. doi: 10.1172/JCI80477. Epub 2015 Oct 12. J Clin Invest. 2015. PMID: 26457731 Free PMC article.
Anti-cytokine autoantibodies and inborn errors of immunity.
Sadighi Akha AA, Kumánovics A. Sadighi Akha AA, et al. Among authors: kumanovics a. J Immunol Methods. 2022 Sep;508:113313. doi: 10.1016/j.jim.2022.113313. Epub 2022 Jul 9. J Immunol Methods. 2022. PMID: 35817172 Review.
Tolerance for three commonly administered COVID-19 vaccines by healthcare professionals.
Melanson SEF, Zhao Z, Kumanovics A, Love T, Meng QH, Wu AHB, Apple F, Ondracek CR, Schulz KM, Wiencek JR, Koch D, Christenson R, Zhang YV. Melanson SEF, et al. Among authors: kumanovics a. Front Public Health. 2022 Sep 27;10:975781. doi: 10.3389/fpubh.2022.975781. eCollection 2022. Front Public Health. 2022. PMID: 36238255 Free PMC article.
56 results