Printable factfile
Disease has an early onset. Patients present bacterial infections occuring after 6 months of age. It may last up to 36 months. Disease is characterised by recurrent respiratory infections and otitis media, bronchitis and/or bronchial asthma and recurrent gastroenteritis. During the first years of lives there is a high incidence of recurrent upper respiratory infections but usually not pneumonias or life-threatening infections. The presence of normal B-cell numbers differentiates THI from XLA. IgM is frequently normal.
Diagnosis
Diagnostic recommendations
Additional Information
Diagnostic laboratories
Clinical:
- Common Variable Immunodeficiency (CVID), eMedicine
- Common Variable Immunodeficiency (CVID), eMedicine
Genetic:
Therapeutic options
- (Intravenous)immunoglobulins may be required and should always be used for a fixed period and be withdrawn to check for spontaneous recovery. All patients recover after treatment. If there is no recovery, than the patients has CVID.
- Transient hypogammaglobulinemia of infancy, eMedicine
Research programs, clinical trials
- European Initiative for Primary Immunodeficiencies
- Improved Healthcare for Patients with Primary Antibody Deficiencies through new Strategies Elucidating their Pathophysiology (IMPAD), IMPAD
- Immune Regulation in Patients with Common Variable Immunodeficiency and Related Syndromes, ClinicalTrials.gov