Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome

We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS) was diagnosed. No other clinical sign of 22q11.2 DS was present with the exception of slight facial dysmorphism. The case is of particu...

Full description

Saved in:
Bibliographic Details
Published in:Pediatric reports 2010-09, Vol.2 (2), p.e13-e13
Main Authors: Colarusso, Gloria, Gambineri, Eleonora, Lapi, Elisabetta, Casini, Tommaso, Tucci, Fabio, Lippi, Francesca, Azzari, Chiara
Format: Article
Language:English
Subjects:
22q11.2 deletion syndrome
Abnormalities
Antibodies
Case Report
Case reports
Chromosome 22
Chromosome deletion
Chromosomes
Cytopenia
Deletion
DiGeorge syndrome
Evans syndrome
Hypogammaglobulinemia
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS) was diagnosed. No other clinical sign of 22q11.2 DS was present with the exception of slight facial dysmorphism. The case is of particular interest because it suggests the need to research chromosome 22q11.2 deletion in patients who present with autoimmune cytopenia and peculiar facial abnormalities, which could be an atypical presentation of an incomplete form of 22q11.2 DS.
ISSN:2036-7503
2036-749X
2036-7503
DOI:10.4081/pr.2010.e13