Michael Keller is a clinical fellow in the division of Allergy & Immunology at the Children's Hospital of Philadelphia. His research focuses on the pathogenesis of several forms of primary immunodeficiency, with an emphasis on common variable immunodeficiency (CVID).
Article first published online: 23 JAN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Medical and Neurodevelopmental Aspects of XXY and Related Multiple X Conditions
Volume 163, Issue 1, pages 50–54, 15 February 2013
How to Cite
Keller, M. D., Sadeghin, T., Samango-Sprouse, C. and Orange, J. S. (2013), Immunodeficiency in patients with 49,XXXXY chromosomal variation. Am. J. Med. Genet., 163: 50–54. doi: 10.1002/ajmg.c.31348
Carole Samango-Sprouse and Jordan S. Orange are Joint senior authors.
How to Cite this Article:Keller MD, Sadeghin T, Samango-Sprouse C, Orange JS. 2013. Immunodeficiency in patients with 49,XXXXY chromosomal variation. Am J Med Genet Part C Semin Med Genet 163C: 50–54.
- Issue published online: 28 JAN 2013
- Article first published online: 23 JAN 2013
Boys affected with 49,XXXXY sex chromosomal variation have been described to have high incidence of recurrent otitis media and asthma, the cause of which is unknown. We hypothesized that primary immunodeficiency occurs in patients with XXXXY aneuploidy. To investigate this, 31 boys with known 49,XXXXY were evaluated through a multidisciplinary clinic. Screening history was performed using the “10 Warning Signs of primary immunodeficiency” (Jeffrey Modell Foundation), as well as by history of atopic and autoimmune conditions. Of the 31 boys, 20 had at least two warning signs of primary immunodeficiency, and five had four or more signs. Sixteen had history of recurrent pneumonia, and 15 carried the diagnosis of asthma. Of the 10 who underwent immunologic screening, eight showed some evidence of impaired antibody responses to polysaccharide antigens, and one was diagnosed with specific antibody deficiency. These preliminary results suggest a high incidence of both atopy and antibody deficiency in boys with 49,XXXXY. © 2013 Wiley Periodicals, Inc.