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

23 Citations (Scopus)

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

Fingerprint

Hemophagocytic Lymphohistiocytosis
Fatal Outcome
Macrophage Activation
Lymphocyte Activation
B-Lymphocytes
Bone Marrow
T-Lymphocytes

Keywords

  • Histiocytosis
  • Velo-cardio-facial syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2. / Arico, M.; Bettinelli, A.; Maccario, R.; Clementi, R.; Bossi, G.; Danesino, C.

In: American Journal of Medical Genetics, Vol. 87, No. 4, 1999, p. 329-330.

Research output: Contribution to journalArticle

Arico, M. ; Bettinelli, A. ; Maccario, R. ; Clementi, R. ; Bossi, G. ; Danesino, C. / Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2. In: American Journal of Medical Genetics. 1999 ; Vol. 87, No. 4. pp. 329-330.
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