Primary Immunodeficiency Associated with Chromosomal Aberration - an ESID Survey

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

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Authors

van der Flier, M

Abstract(s)

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.

Keywords

Chromosomal aberration Genetics Immunology Mental retardation Primary immunodeficiency Recurrent infections HDE PED

URI

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

Citation

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

Publisher

BioMed Central

DOI

10.1186/s13023-016-0492-1

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