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Am J Med Genet. 1999 Dec 3;87(4):329-30.

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

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Clinica Pediatrica, IRCCS Policlinico S. Matteo, Pavia, Italy.


We report on a new patient with deletion of 22q11 associated with hemophagocytic lymphohistiocytosis and a fatal outcome. She had minor facial anomalies and cardiac malformation corresponding to those described in del (22q11) syndrome, normal T and B cell function and NK activity; bone marrow aspiration showed active erythrophagocytosis. Our case in addition to two other children reported previously suggest that such a rare association between lymphocyte-macrophage activation and deletion of 22q11 may be more frequent than previously recognized.

[Indexed for MEDLINE]

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