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Page 1
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velas… See abstract for full author list ➔ Leiding JW, et al. Among authors: ehl s. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Common variable immunodeficiency in children.
Glocker E, Ehl S, Grimbacher B. Glocker E, et al. Among authors: ehl s. Curr Opin Pediatr. 2007 Dec;19(6):685-92. doi: 10.1097/MOP.0b013e3282f1ddd5. Curr Opin Pediatr. 2007. PMID: 18025937 Review.
Toll-like receptor stimulation induces higher TNF-alpha secretion in peripheral blood mononuclear cells from patients with hyper IgE syndrome.
Yeganeh M, Henneke P, Rezaei N, Ehl S, Thiel D, Matamoros N, Pietrogrande C, Espanol T, Litzman J, Franco JL, Sanal O, Kilic SS, Breborowicz A, Plebani A, Renner E, Rothenfusser S, Hawn TR, Woellner C, Grimbacher B. Yeganeh M, et al. Among authors: ehl s. Int Arch Allergy Immunol. 2008;146(3):190-4. doi: 10.1159/000115886. Epub 2008 Feb 11. Int Arch Allergy Immunol. 2008. PMID: 18268386 Free article.
Reduced memory B cells in patients with hyper IgE syndrome.
Speckmann C, Enders A, Woellner C, Thiel D, Rensing-Ehl A, Schlesier M, Rohr J, Jakob T, Oswald E, Kopp MV, Sanal O, Litzman J, Plebani A, Pietrogrande MC, Franco JL, Espanol T, Grimbacher B, Ehl S. Speckmann C, et al. Among authors: ehl s. Clin Immunol. 2008 Dec;129(3):448-54. doi: 10.1016/j.clim.2008.08.002. Epub 2008 Oct 2. Clin Immunol. 2008. PMID: 18835223
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kutukculer N, Camcioğlu Y, Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A, Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM, McCabe ER, Grimbacher B, Chatila TA. Engelhardt KR, et al. Among authors: ehl s. J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4. doi: 10.1016/j.jaci.2009.10.038. J Allergy Clin Immunol. 2009. PMID: 20004785 Free PMC article.
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.
McCarl CA, Picard C, Khalil S, Kawasaki T, Röther J, Papolos A, Kutok J, Hivroz C, Ledeist F, Plogmann K, Ehl S, Notheis G, Albert MH, Belohradsky BH, Kirschner J, Rao A, Fischer A, Feske S. McCarl CA, et al. Among authors: ehl s. J Allergy Clin Immunol. 2009 Dec;124(6):1311-1318.e7. doi: 10.1016/j.jaci.2009.10.007. J Allergy Clin Immunol. 2009. PMID: 20004786 Free PMC article.
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, Pietrogrande MC, Cossu F, Franco JL, Matamoros N, Pietrucha B, Heropolitańska-Pliszka E, Yeganeh M, Moin M, Español T, Ehl S, Gennery AR, Abinun M, Breborowicz A, Niehues T, Kilic SS, Junker A, Turvey SE, Plebani A, Sánchez B, Garty BZ, Pignata C, Cancrini C, Litzman J, Sanal O, Baumann U, Bacchetta R, Hsu AP, Davis JN, Hammarström L, Davies EG, Eren E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Maródi L, Cant AJ, Freeman AF, Puck JM, Holland SM, Grimbacher B. Woellner C, et al. Among authors: ehl s. J Allergy Clin Immunol. 2010 Feb;125(2):424-432.e8. doi: 10.1016/j.jaci.2009.10.059. J Allergy Clin Immunol. 2010. PMID: 20159255 Free PMC article.
257 results