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Page 1
Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency.
Mohammadi J, Liu C, Aghamohammadi A, Bergbreiter A, Du L, Lu J, Rezaei N, Amirzargar AA, Moin M, Salzer U, Pan-Hammarström Q, Hammarström L. Mohammadi J, et al. Among authors: salzer u. J Clin Immunol. 2009 Nov;29(6):777-85. doi: 10.1007/s10875-009-9317-5. Epub 2009 Jul 23. J Clin Immunol. 2009. PMID: 19629655
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: salzer u. 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.
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. Clin Immunol. 2004 Dec;113(3):234-40. doi: 10.1016/j.clim.2004.07.002. Clin Immunol. 2004. PMID: 15507387
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. 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.
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: salzer u. 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.
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: salzer u. 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
147 results