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Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sörqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Kölsch U, Nadifi S, Nilsson M, Bejaoui M, Schäffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B. Sassi A, et al. Among authors: eibel h. J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13. doi: 10.1016/j.jaci.2014.02.025. Epub 2014 Apr 1. J Allergy Clin Immunol. 2014. PMID: 24698316 Free PMC article. Clinical Trial.
B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.
Warnatz K, Salzer U, Rizzi M, Fischer B, Gutenberger S, Böhm J, Kienzler AK, Pan-Hammarström Q, Hammarström L, Rakhmanov M, Schlesier M, Grimbacher B, Peter HH, Eibel H. Warnatz K, et al. Among authors: eibel h. Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13945-50. doi: 10.1073/pnas.0903543106. Epub 2009 Aug 6. Proc Natl Acad Sci U S A. 2009. PMID: 19666484 Free PMC article.
Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells.
Rakhmanov M, Keller B, Gutenberger S, Foerster C, Hoenig M, Driessen G, van der Burg M, van Dongen JJ, Wiech E, Visentini M, Quinti I, Prasse A, Voelxen N, Salzer U, Goldacker S, Fisch P, Eibel H, Schwarz K, Peter HH, Warnatz K. Rakhmanov M, et al. Among authors: eibel h. Proc Natl Acad Sci U S A. 2009 Aug 11;106(32):13451-6. doi: 10.1073/pnas.0901984106. Epub 2009 Jul 29. Proc Natl Acad Sci U S A. 2009. PMID: 19666505 Free PMC article.
Genetic CD21 deficiency is associated with hypogammaglobulinemia.
Thiel J, Kimmig L, Salzer U, Grudzien M, Lebrecht D, Hagena T, Draeger R, Voelxen N, Bergbreiter A, Jennings S, Gutenberger S, Aichem A, Illges H, Hannan JP, Kienzler AK, Rizzi M, Eibel H, Peter HH, Warnatz K, Grimbacher B, Rump JA, Schlesier M. Thiel J, et al. Among authors: eibel h. J Allergy Clin Immunol. 2012 Mar;129(3):801-810.e6. doi: 10.1016/j.jaci.2011.09.027. Epub 2011 Oct 27. J Allergy Clin Immunol. 2012. PMID: 22035880
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: eibel h. 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.
120 results