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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: grimbacher b. 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
Genetic linkage of hyper-IgE syndrome to chromosome 4.
Grimbacher B, Schäffer AA, Holland SM, Davis J, Gallin JI, Malech HL, Atkinson TP, Belohradsky BH, Buckley RH, Cossu F, Español T, Garty BZ, Matamoros N, Myers LA, Nelson RP, Ochs HD, Renner ED, Wellinghausen N, Puck JM. Grimbacher B, et al. Am J Hum Genet. 1999 Sep;65(3):735-44. doi: 10.1086/302547. Am J Hum Genet. 1999. PMID: 10441580 Free PMC article.
Immunoglobulin E in primary immunodeficiency diseases.
Grimbacher B, Belohradsky BH, Holland SM. Grimbacher B, et al. Allergy. 2002 Nov;57(11):995-1007. doi: 10.1034/j.1398-9995.2002.02168.x. Allergy. 2002. PMID: 12358995 Review. No abstract available.
ICOS deficiency in patients with common variable immunodeficiency.
Salzer U, Maul-Pavicic A, Cunningham-Rundles C, Urschel S, Belohradsky BH, Litzman J, Holm A, Franco JL, Plebani A, Hammarstrom L, Skrabl A, Schwinger W, Grimbacher B. Salzer U, et al. Among authors: grimbacher b. Clin Immunol. 2004 Dec;113(3):234-40. doi: 10.1016/j.clim.2004.07.002. Clin Immunol. 2004. PMID: 15507387
Hyper-IgE syndromes.
Grimbacher B, Holland SM, Puck JM. Grimbacher B, et al. Immunol Rev. 2005 Feb;203:244-50. doi: 10.1111/j.0105-2896.2005.00228.x. Immunol Rev. 2005. PMID: 15661034 Review.
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: grimbacher b. Immunogenetics. 2007 Dec;59(12):913-26. doi: 10.1007/s00251-007-0257-z. Epub 2007 Nov 14. Immunogenetics. 2007. PMID: 18000661
331 results