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Page 1
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.
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.
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
Soluble BAFF levels inversely correlate with peripheral B cell numbers and the expression of BAFF receptors.
Kreuzaler M, Rauch M, Salzer U, Birmelin J, Rizzi M, Grimbacher B, Plebani A, Lougaris V, Quinti I, Thon V, Litzman J, Schlesier M, Warnatz K, Thiel J, Rolink AG, Eibel H. Kreuzaler M, et al. Among authors: eibel h. J Immunol. 2012 Jan 1;188(1):497-503. doi: 10.4049/jimmunol.1102321. Epub 2011 Nov 28. J Immunol. 2012. PMID: 22124120 Clinical Trial.
Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.
Stepensky P, Keller B, Buchta M, Kienzler AK, Elpeleg O, Somech R, Cohen S, Shachar I, Miosge LA, Schlesier M, Fuchs I, Enders A, Eibel H, Grimbacher B, Warnatz K. Stepensky P, et al. Among authors: eibel h. J Allergy Clin Immunol. 2013 Feb;131(2):477-85.e1. doi: 10.1016/j.jaci.2012.11.050. J Allergy Clin Immunol. 2013. PMID: 23374270
B-cell biology and development.
Pieper K, Grimbacher B, Eibel H. Pieper K, et al. Among authors: eibel h. J Allergy Clin Immunol. 2013 Apr;131(4):959-71. doi: 10.1016/j.jaci.2013.01.046. Epub 2013 Mar 5. J Allergy Clin Immunol. 2013. PMID: 23465663 Review.
A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency.
Pieper K, Rizzi M, Speletas M, Smulski CR, Sic H, Kraus H, Salzer U, Fiala GJ, Schamel WW, Lougaris V, Plebani A, Hammarstrom L, Recher M, Germenis AE, Grimbacher B, Warnatz K, Rolink AG, Schneider P, Notarangelo LD, Eibel H. Pieper K, et al. Among authors: eibel h. J Allergy Clin Immunol. 2014 Apr;133(4):1222-5. doi: 10.1016/j.jaci.2013.11.021. Epub 2014 Jan 7. J Allergy Clin Immunol. 2014. PMID: 24406071 No abstract available.
Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis.
Sic H, Kraus H, Madl J, Flittner KA, von Münchow AL, Pieper K, Rizzi M, Kienzler AK, Ayata K, Rauer S, Kleuser B, Salzer U, Burger M, Zirlik K, Lougaris V, Plebani A, Römer W, Loeffler C, Scaramuzza S, Villa A, Noguchi E, Grimbacher B, Eibel H. Sic H, et al. Among authors: eibel h. J Allergy Clin Immunol. 2014 Aug;134(2):420-8. doi: 10.1016/j.jaci.2014.01.037. Epub 2014 Mar 26. J Allergy Clin Immunol. 2014. PMID: 24679343
120 results