Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2

We report on a new patient with deletion of 22q11 associated with hemophago cytic lymphohistiocytosis and a fatal outcome. She had minor facial anomali es and cardiac malformation corresponding to those described in del (22q11) syndrome, normal T and B cell function and NK activity; bone marrow aspira tion showed active erythrophagocytosis. Our case in addition to two other c hildren reported previously suggest that such a rare association between ly mphocyte-macrophage activation and deletion of 22q11 may be more frequent t han previously recognized. (C) 1999 Wiley-Liss, Inc.