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Page 1
CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.
Notarangelo LD, Peitsch MC, Abrahamsen TG, Bachelot C, Bordigoni P, Cant AJ, Chapel H, Clementi M, Deacock S, de Saint Basile G, Duse M, Espanol T, Etzioni A, Fasth A, Fischer A, Giliani S, Gomez L, Hammarstorm L, Jones A, Kanariou M, Kinnon C, Klemola T, Kroczek RA, Levy J, Matamoros N, Monafo V, Paolucci P, Reznick I, Sanal O, Smith CI, Thompson RA, Tovo P, Villa A, Vihinen M, Vossen J, Zegers BJ. Notarangelo LD, et al. Among authors: sanal o. Immunol Today. 1996 Nov;17(11):511-6. doi: 10.1016/0167-5699(96)30059-5. Immunol Today. 1996. PMID: 8961627
Clinical spectrum of X-linked hyper-IgM syndrome.
Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, Resnick I, Fasth A, Baer M, Gomez L, Sanders EA, Tabone MD, Plantaz D, Etzioni A, Monafo V, Abinun M, Hammarstrom L, Abrahamsen T, Jones A, Finn A, Klemola T, DeVries E, Sanal O, Peitsch MC, Notarangelo LD. Levy J, et al. Among authors: sanal o. J Pediatr. 1997 Jul;131(1 Pt 1):47-54. doi: 10.1016/s0022-3476(97)70123-9. J Pediatr. 1997. PMID: 9255191
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: sanal o. 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.
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, Catalan N, Forveille M, Dufourcq-Labelouse R, Gennery A, Tezcan I, Ersoy F, Kayserili H, Ugazio AG, Brousse N, Muramatsu M, Notarangelo LD, Kinoshita K, Honjo T, Fischer A, Durandy A. Revy P, et al. Among authors: sanal o. Cell. 2000 Sep 1;102(5):565-75. doi: 10.1016/s0092-8674(00)00079-9. Cell. 2000. PMID: 11007475 Free article.
Human T cell repertoire generation in the absence of MHC class II expression results in a circulating CD4+CD8- population with altered physicochemical properties of complementarity-determining region 3.
Henwood J, van Eggermond MC, van Boxel-Dezaire AH, Schipper R, den Hoedt M, Peijnenburg A, Sanal O, Ersoy F, Rijkers GT, Zegers BJ, Vossen JM, van Tol MJ, van den Elsen PJ. Henwood J, et al. Among authors: sanal o. J Immunol. 1996 Feb 1;156(3):895-906. J Immunol. 1996. PMID: 8558015
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.
Quartier P, Bustamante J, Sanal O, Plebani A, Debré M, Deville A, Litzman J, Levy J, Fermand JP, Lane P, Horneff G, Aksu G, Yalçin I, Davies G, Tezcan I, Ersoy F, Catalan N, Imai K, Fischer A, Durandy A. Quartier P, et al. Among authors: sanal o. Clin Immunol. 2004 Jan;110(1):22-9. doi: 10.1016/j.clim.2003.10.007. Clin Immunol. 2004. PMID: 14962793
A novel mutation in leukocyte adhesion deficiency type II/CDGIIc.
Cagdas D, Yilmaz M, Kandemir N, Tezcan I, Etzioni A, Sanal Ö. Cagdas D, et al. Among authors: sanal o. J Clin Immunol. 2014 Nov;34(8):1009-14. doi: 10.1007/s10875-014-0091-7. Epub 2014 Sep 21. J Clin Immunol. 2014. PMID: 25239688
Reduced memory B cells in patients with hyper IgE syndrome.
Speckmann C, Enders A, Woellner C, Thiel D, Rensing-Ehl A, Schlesier M, Rohr J, Jakob T, Oswald E, Kopp MV, Sanal O, Litzman J, Plebani A, Pietrogrande MC, Franco JL, Espanol T, Grimbacher B, Ehl S. Speckmann C, et al. Among authors: sanal o. Clin Immunol. 2008 Dec;129(3):448-54. doi: 10.1016/j.clim.2008.08.002. Epub 2008 Oct 2. Clin Immunol. 2008. PMID: 18835223
211 results