Printable factfile
Patients with X-linked hypoglammaglobulinemia and isolated growth hormone deficiency have recurrent sinopulmonary infections, short stature and retarded bone age during childhood. The adults have delayed onset of puberty. The immunodeficiency is characterized by absent specific
antibody production in vivo and impaired
immunoglobulin production in vitro. Patients have deficient growth hormone responses to insulin and arginine or levodopa.
Diagnosis
Diagnostic recommendations
Additional Information
Diagnostic laboratories
Clinical:
Genetic:
Therapeutic options
- (Intravenous) immunoglobulins, antibiotic therapy together with physiotherapy and postural drainage in case of lung damage. Oral poliovaccine should not be given because of the risk of paralytic disease.
- Agammaglobulinemia, eMedicine
- Hypogammaglobulinemia, eMedicine
Research programs, clinical trials
- Improved Healthcare for Patients with Primary Antibody Deficiencies through new Strategies Elucidating their Pathophysiology (IMPAD), IMPAD
- European Initiative for Primary Immunodeficiencies
- Immune Regulation in Patients with Common Variable Immunodeficiency and Related Syndromes, ClinicalTrials.gov