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Page 1
DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.
Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, Kostyuchenko L, Genel F, Kütükcüler N, Karaca N, Gonzalez-Granado L, Abbott J, Al-Zahrani D, Rezaei N, Baz Z, Thiel J, Ehl S, Marodi L, Orange JS, Sawalle-Belohradsky J, Keles S, Holland SM, Sanal Ö, Ayvaz DC, Tezcan I, Al-Mousa H, Alsum Z, Hawwari A, Metin A, Matthes-Martin S, Hönig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans J, Kuijpers T, Bredius R, Dückers G, Al-Herz W, Pai SY, Geha R, Notheis G, Schwarze CP, Tavil B, Azik F, Bienemann K, Grimbacher B, Heinz V, Gaspar HB, Aydin R, Hagl B, Gathmann B, Belohradsky BH, Ochs HD, Chatila T, Renner ED, Su H, Freeman AF, Engelhardt K, Albert MH; inborn errors working party of EBMT. Aydin SE, et al. Among authors: ehl s. J Clin Immunol. 2015 Feb;35(2):189-98. doi: 10.1007/s10875-014-0126-0. Epub 2015 Jan 28. J Clin Immunol. 2015. PMID: 25627830
The hyper-IgE syndrome is not caused by a microdeletion syndrome.
Pfeifer D, Woellner C, Petersen A, Pietrogrande MC, Franco JL, Yeganeh M, Ehl S, Matamoros N, Sprecher E, Puck JM, Veelken H, Grimbacher B. Pfeifer D, et al. Among authors: ehl s. Immunogenetics. 2007 Dec;59(12):913-26. doi: 10.1007/s00251-007-0257-z. Epub 2007 Nov 14. Immunogenetics. 2007. PMID: 18000661
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
The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
Pannicke U, Hönig M, Schulze I, Rohr J, Heinz GA, Braun S, Janz I, Rump EM, Seidel MG, Matthes-Martin S, Soerensen J, Greil J, Stachel DK, Belohradsky BH, Albert MH, Schulz A, Ehl S, Friedrich W, Schwarz K. Pannicke U, et al. Among authors: ehl s. Hum Mutat. 2010 Feb;31(2):197-207. doi: 10.1002/humu.21168. Hum Mutat. 2010. PMID: 19953608
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.
256 results