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

M. Arico, A. Bettinelli, R. Maccario, R. Clementi, G. Bossi, C. Danesino

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)329-330
Number of pages2
JournalAmerican Journal of Medical Genetics
Volume87
Issue number4
DOIs
Publication statusPublished - 1999

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Keywords

  • Histiocytosis
  • Velo-cardio-facial syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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