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ICOS deficiency in patients with common variable immunodeficiency.
Ulrich Salzer1, Andrea Maul-Pavicic, Charlotte Cunningham-Rundles
1Division of Rheumatology and Clinical Immunology, University of Freiburg, 79106 Freiburg, Germany.
Clinical Immunology (Orlando, Fla.)
|October 28, 2004
Summary
Inducible costimulator (ICOS) deficiency, a rare cause of Common Variable Immunodeficiency (CVID), was identified in two AR-CVID families. This genetic defect, linked to recurrent bacterial infections, is found in less than 5% of CVID patients.
Area of Science:
- Immunology
- Genetics
Background:
- Common Variable Immunodeficiency (CVID) is a primary antibody deficiency linked to recurrent bacterial infections.
- Homozygous loss of inducible costimulator (ICOS) on T cells can cause adult-onset autosomal recessive CVID (AR-CVID).
Purpose of the Study:
- To investigate the role of ICOS mutations in sporadic and familial AR-CVID.
- To evaluate the incidence of ICOS deficiency in CVID patients.
Main Methods:
- Genomic DNA sequencing of ICOS in 181 sporadic CVID patients and 13 AR-CVID patients from nine families.
- Evaluation of ICOS ligand (ICOS-L) genomic integrity in AR-CVID families.
Main Results:
- Identified five individuals with ICOS deficiency in two of nine AR-CVID families, all carrying a previously described large genomic deletion of ICOS.
- No mutations in the ICOS ligand coding region were found in the remaining seven AR-CVID families.
- ICOS deficiency accounts for less than 5% of CVID cases; nine patients worldwide likely share a common founder.
Conclusions:
- ICOS deficiency is a rare cause of AR-CVID.
- ICOS-L deficiency was not identified as a cause of AR-CVID in this cohort.