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-  2016 

Primary immunodeficiency associated with chromosomal aberration – an ESID survey

DOI: 10.1186/s13023-016-0492-1

Keywords: Genetics, Immunology, Chromosomal aberration, Primary immunodeficiency, Mental retardation, Recurrent infections

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Abstract:

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

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