Schatorjé, Evan der Flier, MSeppänen, MBrowning, MMorsheimer, MHenriet, SNeves, JFVinh, DAlsina, LGrumach, ASoler-Palacin, PBoyce, TCelmeli, FGoudouris, EHayman, GHerriot, RFörster-Waldl, ESeidel, MSimons, Ade Vries, E2016-08-112016-08-112016Orphanet J Rare Dis. 2016 Aug 2;11(1):110http://hdl.handle.net/10400.17/2551Patients 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.engChromosomal aberrationGeneticsImmunologyMental retardationPrimary immunodeficiencyRecurrent infectionsHDE PEDPrimary Immunodeficiency Associated with Chromosomal Aberration - an ESID Surveyjournal article10.1186/s13023-016-0492-1