Alert

Published on December 09, 2019

Hyper IgE (HIES)

Tube Type

Test ID LAB6747
EPIC Order HYPER IGE  (HIES)
CPT Code(s) 81479
Group/Individual Test Individual
Laboratory Molecular Immunology Laboratory
Tube Station 30
Specimen Routine: blood/lavender top; 3.0 mL minimum volume
Availability Routine: Monday-Friday
Turnaround Time 14 days
Reference Range Interpretation
Comments

Genes Targeted:

STAT3 GATA2 DOCK8
CXCR4 SPINK5

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.

Reviewed by Christopher Parker on December 09, 2019

Note: Reference ranges provided on this web site are for guidance only, and may not reflect the most recent changes. Refer to laboratory reports for current reference data.

UNC Hospitals
McLendon Clinical Laboratories
101 Manning Drive
Chapel Hill, NC 27514