Primary Immunodeficiency Associated with Chromosomal Aberration - an ESID Survey


Autoria(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
Data(s)

11/08/2016

11/08/2016

2016

Resumo

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.

Identificador

Orphanet J Rare Dis. 2016 Aug 2;11(1):110

http://hdl.handle.net/10400.17/2551

10.1186/s13023-016-0492-1

Idioma(s)

eng

Publicador

BioMed Central

Direitos

openAccess

Palavras-Chave #Chromosomal aberration #Genetics #Immunology #Mental retardation #Primary immunodeficiency #Recurrent infections #HDE PED
Tipo

article