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A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.
Tesi B, Rascon J, Chiang SCC, Burnyte B, Löfstedt A, Fasth A, Heizmann M, Juozapaite S, Kiudeliene R, Kvedaraite E, Miseviciene V, Muleviciene A, Müller ML, Nordenskjöld M, Matuzeviciene R, Samaitiene R, Speckmann C, Stankeviciene S, Zekas V, Voss M, Ehl S, Vaiciene-Magistris N, Henter JI, Meeths M, Bryceson YT. Tesi B, et al. Among authors: rascon j. J Allergy Clin Immunol. 2018 Jul;142(1):317-321.e8. doi: 10.1016/j.jaci.2018.02.031. Epub 2018 Mar 6. J Allergy Clin Immunol. 2018. PMID: 29522846 Free PMC article. No abstract available.
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
Blincoe A, Heeg M, Campbell PK, Hines M, Khojah A, Klein-Gitelman M, Talano JA, Speckmann C, Touzot F, Lankester A, Legger GE, Rivière JG, Garcia-Prat M, Alonso L, Putti MC, Lehmberg K, Maier S, El Chazli Y, Elmaksoud MA, Astigarraga I, Kurjane N, Bulina I, Kenina V, Bryceson Y, Rascon J, Lortie A, Goldstein G, Booth C, Worth A, Wassmer E, Schmitt EG, Warren JT, Bednarski JJ, Ali S, Chiang KY, Krueger J, Henry MM, Holland SM, Marsh RA, Ehl S, Haddad E. Blincoe A, et al. Among authors: rascon j. J Clin Immunol. 2020 Aug;40(6):901-916. doi: 10.1007/s10875-020-00814-6. Epub 2020 Jul 7. J Clin Immunol. 2020. PMID: 32638196
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Sharapova SO, Skomska-Pawliszak M, Rodina YA, Wolska-Kuśnierz B, Dabrowska-Leonik N, Mikołuć B, Pashchenko OE, Pasic S, Freiberger T, Milota T, Formánková R, Szaflarska A, Siedlar M, Avčin T, Markelj G, Ciznar P, Kalwak K, Kołtan S, Jackowska T, Drabko K, Gagro A, Pac M, Naumova E, Kandilarova S, Babol-Pokora K, Varabyou DS, Barendregt BH, Raykina EV, Varlamova TV, Pavlova AV, Grombirikova H, Debeljak M, Mersiyanova IV, Bondarenko AV, Chernyshova LI, Kostyuchenko LV, Guseva MN, Rascon J, Muleviciene A, Preiksaitiene E, Geier CB, Leiss-Piller A, Yamazaki Y, Kawai T, Walter JE, Kondratenko IV, Šedivá A, van der Burg M, Kuzmenko NB, Notarangelo LD, Bernatowska E, Aleinikova OV. Sharapova SO, et al. Among authors: rascon j. Front Immunol. 2020 Jun 10;11:900. doi: 10.3389/fimmu.2020.00900. eCollection 2020. Front Immunol. 2020. PMID: 32655540 Free PMC article.
Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity.
Groß M, Speckmann C, May A, Gajardo-Carrasco T, Wustrau K, Maier SL, Panning M, Huzly D, Agaimy A, Bryceson YT, Choo S, Chow CW, Dückers G, Fasth A, Fraitag S, Gräwe K, Haxelmans S, Holzinger D, Hudowenz O, Hübschen JM, Khurana C, Kienle K, Klifa R, Korn K, Kutzner H, Lämmermann T, Ledig S, Lipsker D, Meeths M, Naumann-Bartsch N, Rascon J, Schänzer A, Seidl M, Tesi B, Vauloup-Fellous C, Vollmer-Kary B, Warnatz K, Wehr C, Neven B, Vargas P, Sepulveda FE, Lehmberg K, Schmitt-Graeff A, Ehl S. Groß M, et al. Among authors: rascon j. J Allergy Clin Immunol. 2022 Jan;149(1):388-399.e4. doi: 10.1016/j.jaci.2021.05.007. Epub 2021 May 24. J Allergy Clin Immunol. 2022. PMID: 34033843
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
Gulácsy V, Freiberger T, Shcherbina A, Pac M, Chernyshova L, Avcin T, Kondratenko I, Kostyuchenko L, Prokofjeva T, Pasic S, Bernatowska E, Kutukculer N, Rascon J, Iagaru N, Mazza C, Tóth B, Erdos M, van der Burg M, Maródi L; J Project Study Group. Gulácsy V, et al. Among authors: rascon j. Mol Immunol. 2011 Feb;48(5):788-92. doi: 10.1016/j.molimm.2010.11.013. Epub 2010 Dec 24. Mol Immunol. 2011. PMID: 21185603
96 results