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

Narayanaswamy Ramesh*, Ramsay Fuleihan, Vijaya Ramesh, Seth Lederman, Michael J. Yellin, Sunita Sharma, Leonard Chess, Fred S. Rosen, Raif S. Geha

*Corresponding author for this work

Research output: Contribution to journalArticle

68 Scopus citations

Abstract

Patients with X-linked Ig deficiency with normal or elevated IgM (HIGMX-1) fail to switch from IgM/IgD to other Ig isotypes. Interaction between the B cell antigen CD40 and the CD40 ligand expressed on activated T cells is critical for T cell driven isotype switching. We have reported that T lymphocytes from three unrelated male patients with HIGMX-1 failed to express CD40 ligand on their surface, but the mRNA for CD40 ligand was of an apparently normal size and level. Analysis of CD40 ligand cDNA from two of the patients revealed deletions that alter the reading frame. Patient 1 displayed two mutations: a C ← A transversion at nucleotide 590 and the deletion of an adjacent C nucleotide. The second patient had a 58 bp deletion from nucleotides 289-346. Furthermore, neither patient expressed a protein product detectable by the CD40L mAb, 5c8.

Original languageEnglish (US)
Pages (from-to)769-773
Number of pages5
JournalInternational Immunology
Volume5
Issue number7
DOIs
StatePublished - Jul 1 1993

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Keywords

  • CD40 ligand
  • Deletions
  • HIGMX-1

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Ramesh, N., Fuleihan, R., Ramesh, V., Lederman, S., Yellin, M. J., Sharma, S., Chess, L., Rosen, F. S., & Geha, R. S. (1993). Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1). International Immunology, 5(7), 769-773. https://doi.org/10.1093/intimm/5.7.769