Printable factfile
The ICOS-deficient patients have recurrent bacterial infections of the respiratory and digestive tracts characteristic of humoral immunodeficiency. They lack other complicating features of CVID such as splenomegaly, autoimmune phenomena, or sarcoid-like granulomas and do not present with clinical signs of overt T cell immunodeficiency. ICOS deficient patients develop an adult-onset immunodeficiency characterised by low number of B cells, lack of memory cells and low serum Ig.
Diagnosis
Diagnostic recommendations
Additional Information
Diagnostic laboratories
Clinical:
Genetic:
Therapeutic options
- (Intravenous) immunoglobulins and antibiotic therapy together with physiotherapy and postural drainage in case of lung damage. Oral poliovaccine should not be given because there is risk of paralytic disease.
- Common Variable Immunodeficiency (CVID), eMedicine
- Hypogammaglobulinemia, eMedicine
Research programs, clinical trials
- European Initiative for Primary Immunodeficiencies
- Immune System and Gut Abnormalities in Patients with Common Variable Immunodeficiency with and without Gastrointestinal Symptoms, ClinicalTrials.gov
- Improved Healthcare for Patients with Primary Antibody Deficiencies through new Strategies Elucidating their Pathophysiology (IMPAD), IMPAD
- The Genetics of IgA Deficiency and Common Variable Immune Deficiency, Comprehensive Cancer Center, University of Albama at Birmingham, USA
- Immune Regulation in Patients with Common Variable Immunodeficiency and Related Syndromes, ClinicalTrials.gov