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Pediatric Reports
Volume 2
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10.4081/pr.2010.e13
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Case Report

Evans Syndrome and Antibody Deficiency: An Atypical Presentation of Chromosome 22q11.2 Deletion Syndrome

by
Gloria Colarusso
1,*,
Eleonora Gambineri
1,
Elisabetta Lapi
2,
Tommaso Casini
3,
Fabio Tucci
3,
Francesca Lippi
1 and
Chiara Azzari
1
1
Paediatric Immunology Unit, University of Florence, Anna Meyer Children's Hospital, Florence, Italy
2
Genetics and Molecular Medicine Unit, University of Florence, Anna Meyer Children's Hospital, Florence, Italy
3
Paediatric Haematology Unit, University of Florence, Anna Meyer Children's Hospital, Florence, Italy
*
Author to whom correspondence should be addressed.
Pediatr. Rep. 2010, 2(2), e13; https://doi.org/10.4081/pr.2010.e13
Submission received: 12 March 2010 / Revised: 20 May 2010 / Accepted: 25 May 2010 / Published: 9 June 2010

Abstract

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.
Keywords: 22q11.2 deletion syndrome; Evans syndrome; DiGeorge syndrome; cytopenia; hypogammaglobulinemia 22q11.2 deletion syndrome; Evans syndrome; DiGeorge syndrome; cytopenia; hypogammaglobulinemia

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MDPI and ACS Style

Colarusso, G.; Gambineri, E.; Lapi, E.; Casini, T.; Tucci, F.; Lippi, F.; Azzari, C. Evans Syndrome and Antibody Deficiency: An Atypical Presentation of Chromosome 22q11.2 Deletion Syndrome. Pediatr. Rep. 2010, 2, e13. https://doi.org/10.4081/pr.2010.e13

AMA Style

Colarusso G, Gambineri E, Lapi E, Casini T, Tucci F, Lippi F, Azzari C. Evans Syndrome and Antibody Deficiency: An Atypical Presentation of Chromosome 22q11.2 Deletion Syndrome. Pediatric Reports. 2010; 2(2):e13. https://doi.org/10.4081/pr.2010.e13

Chicago/Turabian Style

Colarusso, Gloria, Eleonora Gambineri, Elisabetta Lapi, Tommaso Casini, Fabio Tucci, Francesca Lippi, and Chiara Azzari. 2010. "Evans Syndrome and Antibody Deficiency: An Atypical Presentation of Chromosome 22q11.2 Deletion Syndrome" Pediatric Reports 2, no. 2: e13. https://doi.org/10.4081/pr.2010.e13

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