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4. CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization. de Saint Basile G; Tabone MD; Durandy A; Phan F; Fischer A; Le Deist F Eur J Immunol; 1999 Jan; 29(1):367-73. PubMed ID: 9933119 [TBL] [Abstract][Full Text] [Related]
5. Development of a rapid whole blood flow cytometry procedure for the diagnosis of X-linked hyper-IgM syndrome patients and carriers. O'Gorman MR; Zaas D; Paniagua M; Corrochano V; Scholl PR; Pachman LM Clin Immunol Immunopathol; 1997 Nov; 85(2):172-81. PubMed ID: 9344700 [TBL] [Abstract][Full Text] [Related]
6. Somatic mutations in human Ig variable genes correlate with a partially functional CD40-ligand in the X-linked hyper-IgM syndrome. Razanajaona D; van Kooten C; Lebecque S; Bridon JM; Ho S; Smith S; Callard R; Banchereau J; Brière F J Immunol; 1996 Aug; 157(4):1492-8. PubMed ID: 8759730 [TBL] [Abstract][Full Text] [Related]
7. CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. DiSanto JP; Bonnefoy JY; Gauchat JF; Fischer A; de Saint Basile G Nature; 1993 Feb; 361(6412):541-3. PubMed ID: 8094231 [TBL] [Abstract][Full Text] [Related]
8. Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome. Nonoyama S; Shimadzu M; Toru H; Seyama K; Nunoi H; Neubauer M; Yata J; Och HD Hum Genet; 1997 May; 99(5):624-7. PubMed ID: 9150729 [TBL] [Abstract][Full Text] [Related]
9. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Aruffo A; Farrington M; Hollenbaugh D; Li X; Milatovich A; Nonoyama S; Bajorath J; Grosmaire LS; Stenkamp R; Neubauer M Cell; 1993 Jan; 72(2):291-300. PubMed ID: 7678782 [TBL] [Abstract][Full Text] [Related]
10. Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)". Kroczek RA; Graf D; Brugnoni D; Giliani S; Korthüer U; Ugazio A; Senger G; Mages HW; Villa A; Notarangelo LD Immunol Rev; 1994 Apr; 138():39-59. PubMed ID: 7915248 [TBL] [Abstract][Full Text] [Related]
12. Immunohistologic analysis of ineffective CD40-CD40 ligand interaction in lymphoid tissues from patients with X-linked immunodeficiency with hyper-IgM. Abortive germinal center cell reaction and severe depletion of follicular dendritic cells. Facchetti F; Appiani C; Salvi L; Levy J; Notarangelo LD J Immunol; 1995 Jun; 154(12):6624-33. PubMed ID: 7539026 [TBL] [Abstract][Full Text] [Related]
13. Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. Villa A; Notarangelo LD; Di Santo JP; Macchi PP; Strina D; Frattini A; Lucchini F; Patrosso CM; Giliani S; Mantuano E Proc Natl Acad Sci U S A; 1994 Mar; 91(6):2110-4. PubMed ID: 7907793 [TBL] [Abstract][Full Text] [Related]
14. Coexpression of normal and mutated CD40 ligand with deletion of a putative RNA lariat branchpoint sequence in X-linked hyper-IgM syndrome. Zhu X; Chung I; O'Gorman MR; Scholl PR Clin Immunol; 2001 Jun; 99(3):334-9. PubMed ID: 11358428 [TBL] [Abstract][Full Text] [Related]
15. A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome. Dezsö D; Orth U; Heilbronner H; Gal A Hum Mutat; 1996; 7(2):181-2. PubMed ID: 8829642 [No Abstract] [Full Text] [Related]
16. Signaling through CD40 rescues IgE but not IgG or IgA secretion in X-linked immunodeficiency with hyper-IgM. Saiki O; Tanaka T; Wada Y; Uda H; Inoue A; Katada Y; Izeki M; Iwata M; Nunoi H; Matsuda I J Clin Invest; 1995 Feb; 95(2):510-4. PubMed ID: 7532185 [TBL] [Abstract][Full Text] [Related]
17. CD40:CD40L interactions in X-linked and non-X-linked hyper-IgM syndromes. Bhushan A; Covey LR Immunol Res; 2001; 24(3):311-24. PubMed ID: 11817328 [TBL] [Abstract][Full Text] [Related]
18. 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 Immunol Today; 1996 Nov; 17(11):511-6. PubMed ID: 8961627 [TBL] [Abstract][Full Text] [Related]
19. Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives. Prasad ML; Velickovic M; Weston SA; Benson EM J Clin Pathol; 2005 Jan; 58(1):90-2. PubMed ID: 15623492 [TBL] [Abstract][Full Text] [Related]
20. Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M. Kraakman ME; de Weers M; Español T; Schuurman RK; Hendriks RW Clin Genet; 1995 Jul; 48(1):46-8. PubMed ID: 7586644 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]