Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-017-02434-4.pdf
Reference28 articles.
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2. Bogaert, D. J. et al. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? J. Med. Genet. 53, 575–590, doi: 10.1136/jmedgenet-2015-103690 (2016).
3. Resnick, E. S., Moshier, E. L., Godbold, J. H. & Cunningham-Rundles, C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood 119, 1650–1657, doi: 10.1182/blood-2011-09-377945 (2012).
4. Ming, J. E., Stiehm, E. R. & Graham, J. M. Jr. Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities. Crit. Rev. Clin. Lab. Sci. 40, 587–642, doi: 10.1080/714037692 (2003).
5. Kersseboom, R., Brooks, A. & Weemaes, C. Educational paper: syndromic forms of primary immunodeficiency. Eur. J. Pediatr. 170, 295–308, doi: 10.1007/s00431-011-1396-7 (2011).
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