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

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

J Clin Immunol

Department of Immunology, Erasmus MC, 's-Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands.

Published: November 2015

AI Article Synopsis

  • - Jacobsen syndrome (JS) is a rare genetic disorder linked to a partial deletion on chromosome 11, causing growth issues, facial abnormalities, and blood-related problems, and it has been associated with immune system deficiencies.
  • - A study evaluated 6 JS patients, revealing that 5 had recurrent infections, low antibody levels, and impaired responses to vaccination, indicating significant immune deficiencies.
  • - The findings suggest that JS is a form of primary immunodeficiency, highlighting the importance of early immunological assessment in affected individuals to better manage infections and overall health.

Article 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 with a polysaccharide vaccine (Pneumovax) was measured and B and T lymphocyte subset analyses were performed using flowcytometry.

Results: Five 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.

Conclusions: Most 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659842PMC
http://dx.doi.org/10.1007/s10875-015-0211-zDOI Listing

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