Nijmegen Breakage Syndrome

 

Patients are characterized by microcephaly and a bird-like facies:  sloping forehead, receding mandible, long nose, and upward slanted palpebral fissures.  These features become more prominent as patients become older.  The immunodeficiency in NBS is characterized by agammaglobulinemia (30%), IgA deficiency, or IgG subclass deficiency.  In addition, the majority of patients have T cell lymphopenia and decreased T cell function.     

 

 

Nijmegen Breakage Syndrome