Concepedia

Key findings to expedite the diagnosis of hyper‐IgE syndromes in infants and young children

Beate Hagl, Valerie Heinz, A. Schlesinger, Benedikt D. Spielberger, Julie Sawalle‐Belohradsky, Monika Senn‐Rauh, Thomas Magg, Annette Boos, Manfred Hönig, Klaus Schwarz,

Pediatric Allergy and Immunology · 2015 · 46 citations · 33 references

DOI

Abstract

Differentiating HIES from other diseases such as atopic dermatitis early in life is essential for patients because treatment modalities differ. To expedite the diagnosis process, we propose here a diagnostic workflow.

References

33

<i>STAT3</i> Mutations in the Hyper-IgE Syndrome

Steven M. Holland, Frank R. DeLeo, Houda Zghal Elloumi et al. · New England Journal of Medicine · 2007 · 1.2K citations · Full text

Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

Joshua D. Milner, Jason M. Brenchley, Arian Laurence et al. · Nature · 2008 · 1.1K citations · Full text

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Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome

Yoshiyuki Minegishi, Masako Saitō, Shigeru Tsuchiya et al. · Nature · 2007 · 1K citations

, , +9

Hyper-IgE Syndrome with Recurrent Infections — An Autosomal Dominant Multisystem Disorder

Bodo Grimbacher, Steven M. Holland, John I. Gallin et al. · New England Journal of Medicine · 1999 · 784 citations · Full text

, , +19

Combined Immunodeficiency Associated with <i>DOCK8</i> Mutations

Qian Zhang, Jeremiah C. Davis, Ian T. Lamborn et al. · New England Journal of Medicine · 2009 · 726 citations · Full text