Primary immunodeficiency associated with chromosomal aberration - an ESID survey.

ABSTRACT:

Background

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.

Methods

All members of the European Society for Immunodeficiencies (ESID) were invited to participate by reporting their patients with chromosomal aberration (excluding Down and DiGeorge syndromes) in combination with one or more identified immunological abnormalities potentially relating to primary immunodeficiency. An online questionnaire was used to collect the patient data.

Results

Forty-six patients were i

SUBMITTER: Schatorje E 

PROVIDER: S-EPMC4971718 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature