The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.

ABSTRACT:

Background

Jacobsen syndrome (JS) is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. Clinical features include physical and mental growth retardation, facial dysmorphism, thrombocytopenia, impaired platelet function and pancytopenia. In case reports, recurrent infections and impaired immune cell function compatible with immunodeficiency were described. However, Jacobsen syndrome has not been recognized as an established syndromic primary immunodeficiency.

Goal

To evaluate the presence of immunodeficiency in a series of 6 patients with JS.

Methods

Medical history of 6 patients with JS was evaluated for recurrent infections. IgG, IgA, IgM and specific antibodies against S. pneumoniae were measured. Response to immunization wi

SUBMITTER: Dalm VA 

PROVIDER: S-EPMC4659842 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature