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Page 1
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: hammarstrom l. Clin Immunol. 2004 Dec;113(3):234-40. doi: 10.1016/j.clim.2004.07.002. Clin Immunol. 2004. PMID: 15507387
Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q.
Finck A, Van der Meer JW, Schäffer AA, Pfannstiel J, Fieschi C, Plebani A, Webster AD, Hammarström L, Grimbacher B. Finck A, et al. Among authors: hammarstrom l. Eur J Hum Genet. 2006 Jul;14(7):867-75. doi: 10.1038/sj.ejhg.5201634. Epub 2006 Apr 26. Eur J Hum Genet. 2006. PMID: 16639407
Deconstructing common variable immunodeficiency by genetic analysis.
Schäffer AA, Salzer U, Hammarström L, Grimbacher B. Schäffer AA, et al. Among authors: hammarstrom l. Curr Opin Genet Dev. 2007 Jun;17(3):201-12. doi: 10.1016/j.gde.2007.04.002. Epub 2007 Apr 27. Curr Opin Genet Dev. 2007. PMID: 17467261 Review.
Screening of functional and positional candidate genes in families with common variable immunodeficiency.
Salzer U, Neumann C, Thiel J, Woellner C, Pan-Hammarström Q, Lougaris V, Hagena T, Jung J, Birmelin J, Du L, Metin A, Webster DA, Plebani A, Moschese V, Hammarström L, Schäffer AA, Grimbacher B. Salzer U, et al. Among authors: hammarstrom l. BMC Immunol. 2008 Feb 7;9:3. doi: 10.1186/1471-2172-9-3. BMC Immunol. 2008. PMID: 18254984 Free PMC article.
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.
Salzer U, Bacchelli C, Buckridge S, Pan-Hammarström Q, Jennings S, Lougaris V, Bergbreiter A, Hagena T, Birmelin J, Plebani A, Webster AD, Peter HH, Suez D, Chapel H, McLean-Tooke A, Spickett GP, Anover-Sombke S, Ochs HD, Urschel S, Belohradsky BH, Ugrinovic S, Kumararatne DS, Lawrence TC, Holm AM, Franco JL, Schulze I, Schneider P, Gertz EM, Schäffer AA, Hammarström L, Thrasher AJ, Gaspar HB, Grimbacher B. Salzer U, et al. Among authors: hammarstrom l. Blood. 2009 Feb 26;113(9):1967-76. doi: 10.1182/blood-2008-02-141937. Epub 2008 Nov 3. Blood. 2009. PMID: 18981294 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: hammarstrom l. 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.
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.
Lopez-Herrera G, Tampella G, Pan-Hammarström Q, Herholz P, Trujillo-Vargas CM, Phadwal K, Simon AK, Moutschen M, Etzioni A, Mory A, Srugo I, Melamed D, Hultenby K, Liu C, Baronio M, Vitali M, Philippet P, Dideberg V, Aghamohammadi A, Rezaei N, Enright V, Du L, Salzer U, Eibel H, Pfeifer D, Veelken H, Stauss H, Lougaris V, Plebani A, Gertz EM, Schäffer AA, Hammarström L, Grimbacher B. Lopez-Herrera G, et al. Among authors: hammarstrom l. Am J Hum Genet. 2012 Jun 8;90(6):986-1001. doi: 10.1016/j.ajhg.2012.04.015. Epub 2012 May 17. Am J Hum Genet. 2012. PMID: 22608502 Free PMC article.
1,049 results