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

✍ Scribed by Aric�, Maurizio; Bettinelli, Alberto; Maccario, Rita; Clementi, Rita; Bossi, Grazia; Danesino, Cesare

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 9 KB
Volume: 87
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19991203)87:4<329::aid-ajmg9>3.0.co;2-m

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✦ Synopsis

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 lymphocytemacrophage activation and deletion of 22q11 may be more frequent than previously recognized.

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