Abstract
BackgroundJacobsen 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.GoalTo evaluate the presence of immunodeficiency in a series of 6 patients with JS.MethodsMedical 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 with a polysaccharide vaccine (Pneumovax) was measured and B and T lymphocyte subset analyses were performed using flowcytometry.ResultsFive out of 6 patients suffered from recurrent infections. These patients had low IgG levels and impaired response to S. pneumoniae polysaccharide vaccination. Moreover, we also found a significant decrease in the absolute number of memory B cells, suggesting a defective germinal center function. In a number of patients, low numbers of T lymphocytes and NK cells were found.ConclusionsMost patients with JS suffer from combined immunodeficiency in the presence of recurrent infections. Therefore, we consider JS a syndromic primary immunodeficiency. Early detection of immunodeficiency may reduce the frequency and severity of infections. All JS patients should therefore undergo immunological evaluation. Future studies in a larger cohort of patients will more precisely define the pathophysiology of the immunodeficiency in JS.Electronic supplementary materialThe online version of this article (doi:10.1007/s10875-015-0211-z) contains supplementary material, which is available to authorized users.
Highlights
Jacobsen syndrome (JS) is a contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11, and was initially described by the Danish physician dr
Five out of 6 patients suffered from recurrent infections
Future studies in a larger cohort of patients will more precisely define the pathophysiology of the immunodeficiency in JS
Summary
Jacobsen syndrome (JS) is a contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11, and was initially described by the Danish physician dr. JS is caused by partial deletions of the long arm of chromosome 11, del(11)(q23) [1]. Partial JS with a 5 Mb deletion has been described as well [2, 5]. Jacobsen syndrome (JS) is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. Recurrent infections and impaired immune cell function compatible with immunodeficiency were described. 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
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