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Items: 1 to 20 of 380

1.

Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

Seyama K, Nonoyama S, Gangsaas I, Hollenbaugh D, Pabst HF, Aruffo A, Ochs HD.

Blood. 1998 Oct 1;92(7):2421-34.

2.

CD40 ligand mutants responsible for X-linked hyper-IgM syndrome associate with wild type CD40 ligand.

Seyama K, Osborne WR, Ochs HD.

J Biol Chem. 1999 Apr 16;274(16):11310-20.

3.

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.

PMID:
9150729
4.

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 15;157(4):1492-8.

PMID:
8759730
5.
6.

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 11;361(6412):541-3.

PMID:
8094231
7.

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, et al.

Cell. 1993 Jan 29;72(2):291-300.

PMID:
7678782
8.

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.

PMID:
9344700
9.

CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.

Allen RC, Armitage RJ, Conley ME, Rosenblatt H, Jenkins NA, Copeland NG, Bedell MA, Edelhoff S, Disteche CM, Simoneaux DK, et al.

Science. 1993 Feb 12;259(5097):990-3.

PMID:
7679801
10.

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.

11.

CD40:CD40L interactions in X-linked and non-X-linked hyper-IgM syndromes.

Bhushan A, Covey LR.

Immunol Res. 2001;24(3):311-24. Review.

PMID:
11817328
12.

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, et al.

J Clin Invest. 1995 Feb;95(2):510-4.

13.
14.

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M, Avanzini MA, Marconi M, Badolato R, Ugazio AG, Levy Y, Catalan N, Durandy A, Tbakhi A, Notarangelo LD, Plebani A.

Proc Natl Acad Sci U S A. 2001 Oct 23;98(22):12614-9.

15.

T cell clones from an X-linked hyper-immunoglobulin (IgM) patient induce IgE synthesis in vitro despite expression of nonfunctional CD40 ligand.

Life P, Gauchat JF, Schnuriger V, Estoppey S, Mazzei G, Durandy A, Fischer A, Bonnefoy JY.

J Exp Med. 1994 Nov 1;180(5):1775-84.

16.

Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome.

Cunningham CK, Bonville CA, Ochs HD, Seyama K, John PA, Rotbart HA, Weiner LB.

J Pediatr. 1999 May;134(5):584-8.

PMID:
10228294
17.

Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis.

Lee WI, Zhu Q, Gambineri E, Jin Y, Welcher AA, Ochs HD.

J Allergy Clin Immunol. 2003 Nov;112(5):958-64.

PMID:
14610488
18.
19.

Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L.

Van Hoeyveld E, Zhang PX, De Boeck K, Fuleihan R, Bossuyt X.

Immunology. 2007 Apr;120(4):497-501. Epub 2007 Jan 17.

20.

Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1).

Ramesh N, Fuleihan R, Ramesh V, Lederman S, Yellin MJ, Sharma S, Chess L, Rosen FS, Geha RS.

Int Immunol. 1993 Jul;5(7):769-73.

PMID:
8103673

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