Primary Immunodeficiency Associated with Chromosomal Aberration - an ESID Survey

• Author(s): Schatorjé, E ; van der Flier, M ; Seppänen, M ; Browning, M ; Morsheimer, M ; Henriet, S ; Neves, JF ; Vinh, D ; Alsina, L ; Grumach, A ; Soler-Palacin, P ; Boyce, T ; Celmeli, F ; Goudouris, E ; Hayman, G ; Herriot, R ; Förster-Waldl, E ; Seidel, M ; Simons, A ; de Vries, E
• Date: 2016
• Persistent ID: http://hdl.handle.net/10400.17/2551
• Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
• Subject(s): Chromosomal aberration; Genetics; Immunology; Mental retardation; Primary immunodeficiency; Recurrent infections; HDE PED
• Document Type: Journal article
• Language: English
• Contributor(s): Repositório da Unidade Local de Saúde São José

Description

Patients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated with their underlying chromosomal aberrations outside the well-known examples of Down and DiGeorge syndromes. Therefore, we performed this retrospective, observational survey study.