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Genes Targeted:
| STAT3 |
GATA2 |
DOCK8 |
| CXCR4 |
SPINK5 |
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The Hyper IGE Sequencing assay is performed using capture probes targeting 5 genes with mutations covering 95% of hyper IgE cases [1-4]. Large deletions have been reported for DOCK8 will not be detected using this assay. Autosomal dominant hyper IgE syndrome is typically due to STAT3 mutations whereas autosomal recessive hyper IgE syndrome can be due to DOCK8 and SPINK5. GATA2 is associated with MonoMac and CXCR4 is associated with Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome.
Captured genes are sequenced using Illumina technology. The assay focuses on exonic regions harboring known disease-causing mutations. Detection of insertions or deletions of greater than 2 basepairs has not been assessed.
This test was developed and its performance characteristics validated by the Molecular Immunology Laboratory. It has not been cleared nor approved by the FDA.
References:
[1] S.M. Holland, F.R. DeLeo, H.Z. Elloumi, A.P. Hsu, G. Uzel, N. Brodsky, A.F. Freeman, A. Demidowich, J. Davis, M.L. Turner, V.L. Anderson, D.N. Darnell, P.A. Welch, D.B. Kuhns, D.M. Frucht, H.L. Malech, J.I. Gallin, S.D. Kobayashi, A.R. Whitney, J.M. Voyich, J.M. Musser, C. Woellner, A.A. Schäffer, J.M. Puck, B. Grimbacher, STAT3 Mutations in the Hyper-IgE Syndrome, N. Engl. J. Med. 357 (2007) 1608–1619. doi:10.1056/NEJMoa073687.
[2] K.R. Engelhardt, M.E. Gertz, S. Keles, A.A. Schaffer, E.C. Sigmund, C. Glocker, S. Saghafi, Z. Pourpak, R. Ceja, A. Sassi, L.E. Graham, M.J. Massaad, F. Mellouli, I. Ben-Mustapha, M. Khemiri, S.S. Kilic, A. Etzioni, A.F. Freeman, J. Thiel, I. Schulze, W. Al-Herz, A. Metin, O. Sanal, I. Tezcan, M. Yeganeh, T. Niehues, G. Dueckers, S. Weinspach, T. Patiroglu, E. Unal, M. Dasouki, M. Yilmaz, F. Genel, C. Aytekin, N. Kutukculer, A. Somer, M. Kilic, I. Reisli, Y. Camcioglu, A.R. Gennery, A.J. Cant, A. Jones, B.H. Gaspar, P.D. Arkwright, M.C. Pietrogrande, Z. Baz, S. Al-Tamemi, V. Lougaris, G. Lefranc, A. Megarbane, J. Boutros, N. Galal, M. Bejaoui, M.R. Barbouche, R.S. Geha, T.A. Chatila, B. Grimbacher, The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency, J Allergy Clin Immunol. 136 (2015) 402–412. doi:10.1016/j.jaci.2014.12.1945.
[3] J. Heimall, A. Freeman, S.M. Holland, Pathogenesis of hyper IgE syndrome., Clin. Rev. Allergy Immunol. 38 (2010) 32–38. doi:10.1007/s12016-009-8134-1.
[4] C.M. Biggs, S. Keles, T.A. Chatila, DOCK8 deficiency: Insights into pathophysiology, clinical features and management., Clin. Immunol. 181 (2017) 75–82. doi:10.1016/j.clim.2017.06.003.
Please call lab (984-974-4057) with questions.
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