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Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again
- Source :
- Expert Review of Clinical Immunology. 10:91-105
- Publication Year :
- 2013
- Publisher :
- Informa UK Limited, 2013.
-
Abstract
- The immunoglobulin class switch recombination deficiency or hyper-IgM syndrome is characterized by normal or elevated serum IgM and low serum levels of other immunoglobulins. Since the first reported patient with hyper-IgM, more than 200 patients with this phenotype resulted from CD40 ligand deficiency have been reported. However, in addition to this common finding, they presented with different manifestations like opportunistic infections, autoimmunity and malignancies each of them are worth a detailed look. In this review, we will focus on different underlying mechanisms of these presentations to review what we have learned from our patients. In the end, we will discuss different treatment options available for these patients using this knowledge.
- Subjects :
- Hyper-IgM Immunodeficiency Syndrome
CD40 Ligand
Immunology
Opportunistic Infections
medicine.disease_cause
Immunoglobulin Class Switch Recombination
Autoimmune Diseases
Autoimmunity
Neoplasms
medicine
Animals
Humans
Immunology and Allergy
Immunodeficiency
biology
Hyper-IgM Immunodeficiency Syndrome, Type 1
business.industry
CD40 Ligand Deficiency
medicine.disease
Immunoglobulin Class Switching
Phenotype
Immunoglobulin class switching
biology.protein
Antibody
business
Subjects
Details
- ISSN :
- 17448409 and 1744666X
- Volume :
- 10
- Database :
- OpenAIRE
- Journal :
- Expert Review of Clinical Immunology
- Accession number :
- edsair.doi.dedup.....cfc545ebbfd4767ac8c1a39c826ba459