Patients with
BLNK deficiency have normal growth and development. They have reccurent otitis and episodes of pneumonia and no detectable serum IgG, IgM or IgA, and less than 1% B cells in circulation. After gammaglobulin replacement, patient did well except for chronic otitis and sinusitis, hepatitis C acquiered, and an episode of protein-losing enteropathy.
Diagnosis
Diagnostic recommendations
Additional Information
Diagnostic laboratories
Clinical:
Therapeutic options
- (Intravenous) immunoglobulins, and antibiotic therapy. Oral poliovaccine should not be given because of the risk of paralytic disease.
- Bruton Agammaglobulinemia, eMedicine
- Hypogammaglobulinemia, eMedicine