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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1999-12-22
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0148-7299
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 1999 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:day |
3
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pubmed:volume |
87
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
329-30
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:10588839-Abnormalities, Multiple,
pubmed-meshheading:10588839-Child,
pubmed-meshheading:10588839-Child, Preschool,
pubmed-meshheading:10588839-Chromosome Deletion,
pubmed-meshheading:10588839-Chromosomes, Human, Pair 22,
pubmed-meshheading:10588839-Face,
pubmed-meshheading:10588839-Fatal Outcome,
pubmed-meshheading:10588839-Female,
pubmed-meshheading:10588839-Follow-Up Studies,
pubmed-meshheading:10588839-Heart Defects, Congenital,
pubmed-meshheading:10588839-Histiocytosis, Non-Langerhans-Cell,
pubmed-meshheading:10588839-Humans,
pubmed-meshheading:10588839-Hypoparathyroidism,
pubmed-meshheading:10588839-Infant,
pubmed-meshheading:10588839-Infant, Newborn
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pubmed:year |
1999
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pubmed:articleTitle |
Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2.
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pubmed:affiliation |
Clinica Pediatrica, IRCCS Policlinico S. Matteo, Pavia, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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