DNA Ligase IV Deficiency

 

 

Patients have microcephaly, broad nasal bridge and broad nasal tip.  Patients with bird-like facies have also been reported.  The immunologic phenotype can range from T-B-NK+ SCID to milder degrees of lymphopenia and hypogammaglobulinemia.  Pancytopenia from marrow failure has been reported in some patients.   

 

 

DNA Ligase IV Deficiency