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

• Главные авторы: Gloria Colarusso (Автор), Eleonora Gambineri (Автор), Elisabetta Lapi (Автор), Tommaso Casini (Автор), Fabio Tucci (Автор), Francesca Lippi (Автор), Chiara Azzari (Автор)
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• Опубликовано: MDPI AG, 2010-06-01T00:00:00Z.
• Предметы: article
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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...