Cernunnos Deficiency

 

 

Patients are characterized by microcephaly, IUGR, severe growth retardation, and bird-like facies.  The immunologic phenotype can range from T-B-NK+ SCID to milder degrees of lymphopenia and hypogammaglobulinemia.  All reported patients suffered from recurrent bacterial and opportunistic infections. 

Cernunnos Deficiency