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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...
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| Published in: | Pediatric reports 2010-09, Vol.2 (2), p.e13-e13 |
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| container_end_page | e13 |
| container_issue | 2 |
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| container_title | Pediatric reports |
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| creator | Colarusso, Gloria Gambineri, Eleonora Lapi, Elisabetta Casini, Tommaso Tucci, Fabio Lippi, Francesca Azzari, Chiara |
| description | 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. |
| doi_str_mv | 10.4081/pr.2010.e13 |
| format | article |
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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.</description><identifier>ISSN: 2036-7503</identifier><identifier>ISSN: 2036-749X</identifier><identifier>EISSN: 2036-7503</identifier><identifier>DOI: 10.4081/pr.2010.e13</identifier><identifier>PMID: 21589826</identifier><language>eng</language><publisher>Italy: MDPI AG</publisher><subject>22q11.2 deletion syndrome ; Abnormalities ; Antibodies ; Case Report ; Case reports ; Chromosome 22 ; Chromosome deletion ; Chromosomes ; Cytopenia ; Deletion ; DiGeorge syndrome ; Evans syndrome ; Hypogammaglobulinemia</subject><ispartof>Pediatric reports, 2010-09, Vol.2 (2), p.e13-e13</ispartof><rights>2010. 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| subjects | 22q11.2 deletion syndrome Abnormalities Antibodies Case Report Case reports Chromosome 22 Chromosome deletion Chromosomes Cytopenia Deletion DiGeorge syndrome Evans syndrome Hypogammaglobulinemia |
| title | Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome |
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