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Page 1
"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.
Olyha SJ, O'Connor SK, Kribis M, Bucklin ML, Uthaya Kumar DB, Tyler PM, Alam F, Jones KM, Sheikha H, Konnikova L, Lakhani SA, Montgomery RR, Catanzaro J, Du H, DiGiacomo DV, Rothermel H, Moran CJ, Fiedler K, Warner N, Hoppenreijs EPAH, van der Made CI, Hoischen A, Olbrich P, Neth O, Rodríguez-Martínez A, Lucena Soto JM, van Rossum AMC, Dalm VASH, Muise AM, Lucas CL. Olyha SJ, et al. Among authors: konnikova l. J Clin Immunol. 2024 Jan 17;44(2):44. doi: 10.1007/s10875-023-01610-8. J Clin Immunol. 2024. PMID: 38231408
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy.
Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C. Kotlarz D, et al. Among authors: konnikova l. Nat Genet. 2018 Mar;50(3):344-348. doi: 10.1038/s41588-018-0063-6. Epub 2018 Feb 26. Nat Genet. 2018. PMID: 29483653 Free PMC article.
Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis.
Vardi I, Chermesh I, Werner L, Barel O, Freund T, McCourt C, Fisher Y, Pinsker M, Javasky E, Weiss B, Rechavi G, Hagin D, Snapper SB, Somech R, Konnikova L, Shouval DS. Vardi I, et al. Among authors: konnikova l. Front Immunol. 2020 Sep 4;11:1775. doi: 10.3389/fimmu.2020.01775. eCollection 2020. Front Immunol. 2020. PMID: 33013830 Free PMC article.
Interleukin 1β Mediates Intestinal Inflammation in Mice and Patients With Interleukin 10 Receptor Deficiency.
Shouval DS, Biswas A, Kang YH, Griffith AE, Konnikova L, Mascanfroni ID, Redhu NS, Frei SM, Field M, Doty AL, Goldsmith JD, Bhan AK, Loizides A, Weiss B, Yerushalmi B, Yanagi T, Lui X, Quintana FJ, Muise AM, Klein C, Horwitz BH, Glover SC, Bousvaros A, Snapper SB. Shouval DS, et al. Among authors: konnikova l. Gastroenterology. 2016 Dec;151(6):1100-1104. doi: 10.1053/j.gastro.2016.08.055. Epub 2016 Sep 28. Gastroenterology. 2016. PMID: 27693323 Free PMC article.
Enhanced TH17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBD.
Shouval DS, Konnikova L, Griffith AE, Wall SM, Biswas A, Werner L, Nunberg M, Kammermeier J, Goettel JA, Anand R, Chen H, Weiss B, Li J, Loizides A, Yerushalmi B, Yanagi T, Beier R, Conklin LS, Ebens CL, Santos FGMS, Sherlock M, Goldsmith JD, Kotlarz D, Glover SC, Shah N, Bousvaros A, Uhlig HH, Muise AM, Klein C, Snapper SB. Shouval DS, et al. Among authors: konnikova l. Inflamm Bowel Dis. 2017 Nov;23(11):1950-1961. doi: 10.1097/MIB.0000000000001270. Inflamm Bowel Dis. 2017. PMID: 29023267
Serum IgG4 Subclass Deficiency Defines a Distinct, Commonly Encountered, Severe Inflammatory Bowel Disease Subtype.
Koutroumpakis F, Phillips AE, Yadav D, Machicado JD, Ahsan M, Ramos Rivers C, Tan X, Schwartz M, Proksell S, Johnston E, Dueker J, Hashash JG, Barrie A, Harrison J, Dunn MA, Konnikova L, Hartman DJ, Din H, Babichenko D, Tang G, Binion DG. Koutroumpakis F, et al. Among authors: konnikova l. Inflamm Bowel Dis. 2021 May 17;27(6):855-863. doi: 10.1093/ibd/izaa230. Inflamm Bowel Dis. 2021. PMID: 32879976
RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features.
Sultan M, Adawi M, Kol N, McCourt B, Adawi I, Baram L, Tal N, Werner L, Lev A, Snapper SB, Barel O, Konnikova L, Somech R, Shouval DS. Sultan M, et al. Among authors: konnikova l. Front Immunol. 2022 Nov 18;13:1041315. doi: 10.3389/fimmu.2022.1041315. eCollection 2022. Front Immunol. 2022. PMID: 36466854 Free PMC article.
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.
Serra EG, Schwerd T, Moutsianas L, Cavounidis A, Fachal L, Pandey S, Kammermeier J, Croft NM, Posovszky C, Rodrigues A, Russell RK, Barakat F, Auth MKH, Heuschkel R, Zilbauer M, Fyderek K, Braegger C, Travis SP, Satsangi J, Parkes M, Thapar N, Ferry H, Matte JC, Gilmour KC, Wedrychowicz A, Sullivan P, Moore C, Sambrook J, Ouwehand W, Roberts D, Danesh J, Baeumler TA, Fulga TA, Carrami EM, Ahmed A, Wilson R, Barrett JC, Elkadri A, Griffiths AM; COLORS in IBD group investigators; Oxford IBD cohort study investigators; INTERVAL Study; Swiss IBD cohort investigators; UK IBD Genetics Consortium; NIDDK IBD Genetics Consortium; Snapper SB, Shah N, Muise AM, Wilson DC, Uhlig HH, Anderson CA. Serra EG, et al. Nat Commun. 2020 Feb 21;11(1):995. doi: 10.1038/s41467-019-14275-y. Nat Commun. 2020. PMID: 32081864 Free PMC article.
Small intestinal immunopathology and GI-associated antibody formation in hereditary alpha-tryptasemia.
Konnikova L, Robinson TO, Owings AH, Shirley JF, Davis E, Tang Y, Wall S, Li J, Hasan MH, Gharaibeh RZ, Mendoza Alvarez LB, Ryan LK, Doty A, Chovanec JF, O'Connell MP, Grunes DE, Daley WP, Mayer E, Chang L, Liu J, Snapper SB, Milner JD, Glover SC, Lyons JJ. Konnikova L, et al. J Allergy Clin Immunol. 2021 Sep;148(3):813-821.e7. doi: 10.1016/j.jaci.2021.04.004. Epub 2021 Apr 15. J Allergy Clin Immunol. 2021. PMID: 33865872 Free PMC article.
An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.
Ziv A, Werner L, Konnikova L, Awad A, Jeske T, Hastreiter M, Mitsialis V, Stauber T, Wall S, Kotlarz D, Klein C, Snapper SB, Tzfati Y, Weiss B, Somech R, Shouval DS. Ziv A, et al. Among authors: konnikova l. J Clin Immunol. 2020 Oct;40(7):1010-1019. doi: 10.1007/s10875-020-00829-z. Epub 2020 Jul 24. J Clin Immunol. 2020. PMID: 32710398
54 results