✦ LIBER ✦

CD40 ligand and its role in X-linked hyper-IgM syndrome

✍ Scribed by Robin E. Callard; Richard J. Armitage; William C. Fanslow; Melanie K. Spriggs

Publisher: Elsevier Science
Year: 1993
Tongue: English
Weight: 550 KB
Volume: 14
Category: Article
ISSN: 0167-5699
DOI: 10.1016/0167-5699(93)90188-q

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation analysis in CD40 ligand deficie

Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome

✍ Fay Katz; Steve Hinshelwood; Paul Rutland; Alison Jones; Christine Kinnon; Garet 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 680 KB

Mutations in the gene encoding CD40 ligand have been shown to be the cause of X-linked hypogammaglobulinemia with hyper IgM (HIGM1). We have used the technique of single strand conformational polymorphism (SSCP) analysis to screen for mutations in this gene in affected boys from nineteen unrelated f

Mutations of the CD40 ligand gene in 13

Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome

✍ Shigeaki Nonoyama; Mitsunobu Shimadzu; Hano Toru; Kuniaki Seyama; Hiroyuki Nunoi 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 65 KB

CD40Lbase: a database of CD40L gene muta

CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome

✍ Luigi D. Notarangelo; Manuel C. Peitsch; Tore G. Abrahamsen; Colette Bachelot; P 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 865 KB

one or a few amino acids may result in cell-surface expr~sion of ~/c protein that cannot interact correctly with intracellularsignaling proteins.

CD40 ligand expression deficiency in a f

CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization

✍ Geneviève de Saint Basile; Marie-Dominique Tabone; Anne Durandy; Florence Phan; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 118 KB 👁 2 views

A novel splice-site mutation in the CD40

A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome

✍ Dezsö David; Ulrike Orth; Helmut Heilbronner; Andreas Gal 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 215 KB 👁 2 views

Induction by anti-CD40 antibody or solub

Induction by anti-CD40 antibody or soluble CD40 ligand and cytokines of IgG, IgA and IgE production by B cells from patients with X-linked hyper IgM syndrome

✍ Anne Durandy; Claudine Schiff; Jean Yves Bonnefoy; Monique Forveille; Françoise 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 551 KB

## Abstract We studied the ability of B lymphocytes from patients with X‐linked hyper IgM syndrome (HIGM1) to be activated via the CD40 membrane receptor. HIGM1 is caused by a CD40 ligand gene mutation, leading to defective expression on the membrane of activated T lymphocytes. We found that trigge