BLNK deficiency

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.