%0 Journal Article
%T Primary immunodeficiency associated with chromosomal aberration ¨C an ESID survey
%A Anete Grumach
%A Annet Simons
%A Donald Cuong Vinh
%A Ekaterini Goudouris
%A Elisabeth F£¿rster-Waldl
%A Ellen Schatorj¨¦
%A Esther de Vries
%A Fatih Celmeli
%A Grant Hayman
%A Jo£¿o Farela Neves
%A Laia Alsina
%A Markus Seidel
%A Megan Morsheimer
%A Michael Browning
%A Michiel van der Flier
%A Mikko Sepp£¿nen
%A Pere Soler-Palacin
%A Richard Herriot
%A Stefanie Henriet
%A Thomas Boyce
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2016
%R 10.1186/s13023-016-0492-1
%X 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
%K Genetics
%K Immunology
%K Chromosomal aberration
%K Primary immunodeficiency
%K Mental retardation
%K Recurrent infections
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971718/