A Novel Immunodeficiency Syndrome Associated with Partial Trisomy 19p13

Immunodeficiency may be underrecognized in syndromic disorders, in particular in clinical situations where other features are prominent or implicate barrier dysfunctions. We here report on two unrelated male patients showing clear signs of immunodeficiency with impaired antibody production and serious infections, who both exhibit a duplication involving Chromosome 19p13. Presented findings underline that i) patients with multiple malformations should undergo genomic (CGH) array analysis and ii) patients with recurrent infections and syndromic features or microdeletions/-duplications should be tested for associated immunodeficiency to prevent a diagnostic and therapeutic delay and enable initiation of specific immunotherapy as early as possible. (By Dr. Markus G. Seidel, http://jmg.bmj.com/content/early/2014/01/15/jmedgenet-2013-102122 )