The x-linked hyperimmunoglobulin M syndrome

R. L. Fuleihan*

*Corresponding author for this work

Research output: Contribution to journalReview article

30 Citations (Scopus)

Abstract

X-linked hyperimmunoglobulin M (X-HIM) is a rare inherited immune deficiency disease that was first described in 1961. Affected patients suffer recurrent pyogenic and opportunistic infections, neutropenia, and an increased susceptibility to cancer. In 1993, five groups independently showed that this disease results from defects in the CD40 ligand gene. CD40 ligand is a 39-kDa protein expressed on the surface of activated CD4+ T cells that delivers contact-dependent signals to CD40-expressing cells: B cells, monocytes, dendritic cells, epithelial cells, endothelial cells, and fibroblasts. The loss of interaction between CD40 and its ligand results in an impairment of T-cell function, of B-cell differentiation, and of monocyte function. Identification of the genetic defect in X-HIM has provided a definitive diagnosis of the disease, a better description of the clinical manifestations, and the capacity for genetic screening. Studies of the role of CD40 and its ligand in the immune response from many laboratories around the world have provided a better understanding of the pathogenesis of the disease. Further research may lead to novel and definitive therapeutic options for patients with X-HIM.

Original languageEnglish (US)
Pages (from-to)321-331
Number of pages11
JournalSeminars in Hematology
Volume35
Issue number4
StatePublished - Oct 29 1998

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CD40 Ligand
Monocytes
B-Lymphocytes
T-Lymphocytes
Opportunistic Infections
Genetic Testing
Neutropenia
Dendritic Cells
Cell Differentiation
Endothelial Cells
Fibroblasts
Epithelial Cells
Light Fixation Seizure Syndrome
Research
Genes
Neoplasms
Proteins
Therapeutics

ASJC Scopus subject areas

  • Hematology

Cite this

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abstract = "X-linked hyperimmunoglobulin M (X-HIM) is a rare inherited immune deficiency disease that was first described in 1961. Affected patients suffer recurrent pyogenic and opportunistic infections, neutropenia, and an increased susceptibility to cancer. In 1993, five groups independently showed that this disease results from defects in the CD40 ligand gene. CD40 ligand is a 39-kDa protein expressed on the surface of activated CD4+ T cells that delivers contact-dependent signals to CD40-expressing cells: B cells, monocytes, dendritic cells, epithelial cells, endothelial cells, and fibroblasts. The loss of interaction between CD40 and its ligand results in an impairment of T-cell function, of B-cell differentiation, and of monocyte function. Identification of the genetic defect in X-HIM has provided a definitive diagnosis of the disease, a better description of the clinical manifestations, and the capacity for genetic screening. Studies of the role of CD40 and its ligand in the immune response from many laboratories around the world have provided a better understanding of the pathogenesis of the disease. Further research may lead to novel and definitive therapeutic options for patients with X-HIM.",
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The x-linked hyperimmunoglobulin M syndrome. / Fuleihan, R. L.

In: Seminars in Hematology, Vol. 35, No. 4, 29.10.1998, p. 321-331.

Research output: Contribution to journalReview article

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