Immunodeficiency, centromere instability and facial abnormalities syndrome (ICF)

Features of this disease include severe immunodeficiency with an absence or profound reduction in at least two immunoglobulin isotypes which cause most ICF patients to succumb to infectious diseases before adulthood. In some cases patients can have impaired cellular immunity, neurologic and intestinal dysfunction, peculiar facial features, and delayed developmental milestones. Affected individuals usually suffer from severe respiratory tract infections, and often do not survive into adulthood. Mild facial anomalies include hypertelorism, low-set ears, epicanthal folds and macroglossia.

Diagnostic laboratories



Therapeutic options

Research programs, clinical trials