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

• Ngā kaituhi matua: Gloria Colarusso (Author), Eleonora Gambineri (Author), Elisabetta Lapi (Author), Tommaso Casini (Author), Fabio Tucci (Author), Francesca Lippi (Author), Chiara Azzari (Author)
• Hōputu: Pukapuka
• I whakaputaina: MDPI AG, 2010-06-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

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...