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

doi:10.1093/intimm/5.7.769

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

Pediatrics

Research output: Contribution to journal › Article › peer-review

10 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 language	English (US)
Pages (from-to)	769-773
Number of pages	5
Journal	International Immunology
Volume	5
Issue number	7
DOIs	https://doi.org/10.1093/intimm/5.7.769
State	Published - Jul 1993

Keywords

CD40 ligand
Deletions
HIGMX-1

ASJC Scopus subject areas

Immunology and Allergy
Immunology

Access to Document

10.1093/intimm/5.7.769

Cite this

@article{1e086bf06cda4809ab3ee4fc428e6fd7,

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

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.",

keywords = "CD40 ligand, Deletions, HIGMX-1",

author = "Narayanaswamy Ramesh and Ramsay Fuleihan and Vijaya Ramesh and Seth Lederman and Yellin, {Michael J.} and Sunita Sharma and Leonard Chess and Rosen, {Fred S.} and Geha, {Raif S.}",

note = "Funding Information: This work was supported by NIH grants to R.S.G., S.L., and L.C., by a grant from the March of Dimes, and by grants from Caremark, Critical Care of America, and Home Nutritional Services to R.S.G. R.F. is supported by grants from the Immune Deficiency Foundation (Cutter Award) and the Lucille P. Markey trust S.L. is an Arthritis Investigator of the Arthritis Foundation. M.J. is the recipient of post-doctoral awards from the National Arthritis Foundation and the New York Chapter of Arthritis Foundation. We thank Eleanor Teehan and Trina Mohny for their help in DNA sequence analysis. The first two authors contributed equally.",

year = "1993",

month = jul,

doi = "10.1093/intimm/5.7.769",

language = "English (US)",

volume = "5",

pages = "769--773",

journal = "International Immunology",

issn = "0953-8178",

publisher = "Oxford University Press",

number = "7",

}

TY - JOUR

T1 - Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1)

AU - Ramesh, Narayanaswamy

AU - Fuleihan, Ramsay

AU - Ramesh, Vijaya

AU - Lederman, Seth

AU - Yellin, Michael J.

AU - Sharma, Sunita

AU - Chess, Leonard

AU - Rosen, Fred S.

AU - Geha, Raif S.

N1 - Funding Information: This work was supported by NIH grants to R.S.G., S.L., and L.C., by a grant from the March of Dimes, and by grants from Caremark, Critical Care of America, and Home Nutritional Services to R.S.G. R.F. is supported by grants from the Immune Deficiency Foundation (Cutter Award) and the Lucille P. Markey trust S.L. is an Arthritis Investigator of the Arthritis Foundation. M.J. is the recipient of post-doctoral awards from the National Arthritis Foundation and the New York Chapter of Arthritis Foundation. We thank Eleanor Teehan and Trina Mohny for their help in DNA sequence analysis. The first two authors contributed equally.

PY - 1993/7

Y1 - 1993/7

N2 - 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.

AB - 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.

KW - CD40 ligand

KW - Deletions

KW - HIGMX-1

UR - http://www.scopus.com/inward/record.url?scp=0027199021&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027199021&partnerID=8YFLogxK

U2 - 10.1093/intimm/5.7.769

DO - 10.1093/intimm/5.7.769

M3 - Article

C2 - 8103673

AN - SCOPUS:0027199021

SN - 0953-8178

VL - 5

SP - 769

EP - 773

JO - International Immunology

JF - International Immunology

IS - 7

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this