title: Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome.
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.
authors: Paediatric Immunology Unit.
authors: Gloria
authors: G
authors: Colarusso
authors: Eleonora
authors: E
authors: Gambineri
authors: Elisabetta
authors: E
authors: Lapi
authors: Tommaso
authors: T
authors: Casini
authors: Fabio
authors: F
authors: Tucci
authors: Francesca
authors: F
authors: Lippi
authors: Chiara
authors: C
authors: Azzari
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