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Cited by 67Immunodeficiency and Autoimmune DisordersT-cell and B-cell ImmunologyAutoimmune and Inflammatory Disorders Research

Human hyper-IgE syndrome: singular or plural?

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Zhang, Qian, Boisson, Bertrand, Béziat, Vivien, Puel, Anne, Casanova, Jean-Laurent·2018·Mammalian Genome
DOI 10.1007/s00335-018-9767-2PMC PMC6317873
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Abstract

Spectacular progress has been made in the characterization of human hyper-IgE syndrome (HIES) over the last 50 years. HIES is a primary immunodeficiency defined as an association of atopy in a context of very high serum IgE levels, characteristic bacterial and fungal diseases, low-level clinical and biological inflammation, and various non-hematopoietic developmental manifestations. Somewhat arbitrarily, three disorders were successively put forward as the underlying cause of HIES: autosomal dominant (AD) STAT3 deficiency, the only disorder corresponding to the original definition of HIES, and autosomal recessive (AR) DOCK8 and PGM3 deficiencies, in which atopy and high serum IgE levels occur in a context of manifestations not seen in patients with typical HIES. Indeed, these three disorders disrupt different molecular pathways, affect different cell types, and underlie different clinical phenotypes. Surprisingly, several other inherited inborn errors of immunity in which serum IgE levels are high, sometimes almost as high as those in HIES patients, are not considered to belong to the HIES group of diseases. Studies of HIES have been further complicated by the lack of a high serum IgE phenotype in all mouse models of the disease other than two Stat3 mutant strains. The study of infections in mutant mice has helped elucidate only some forms of HIES and infection. Mouse models of these conditions have also been used to study non-hematopoietic phenotypes for STAT3 deficiency, tissue-specific immunity for DOCK8 deficiency, and cell lineage maturation for PGM3 deficiency. We review here the history of the field of HIES since the first clinical description of this condition in 1966, together with the three disorders commonly referred to as HIES, focusing, in particular, on their mouse models. We propose the restriction of the term "HIES" to patients with an AD STAT3-deficiency phenotype, including the most recently described AR ZNF341 deficiency, thus excluding AR DOCK8 and PGM3 deficiencies from the definition of this disease.

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  • AD-HIES is a rare multisystem disorder classified as a primary immunodeficiency disease, usually of children.

    “AD-HIES is a rare multisystem disorder classified as a primary immunodeficiency disease, usually of children”

    From Targeting Janus Kinases and Signal Transducer and Activator of Transcription 3 To Treat Inflammation, Fibrosis, and Cancer: Rationale, Progress, and Caution (2020) · cites this paper as Zhang et al., 2018

    The Abstract identifies HIES as a primary immunodeficiency, and the Job’s syndrome section describes its immune, skeletal, dental, joint, and vascular manifestations and reports more than 200 patients worldwide. That section describes neonatal and other early signs, but it does not characterize AD-HIES as usually a disorder of children; it also reports that around 80% of patients live to at least age 50. (LLM, conf=0.83)

    Experimental — accuracy not yet measured

  • AD-HIES primary immune defects include decreased generation of Th17 cells and production of IL-17 and IL-22, which reduces epithelial production of chemokines and defensins.

    “decreased generation of Th17 cells and production of IL-17 and IL-22, which reduces epithelial production of chemokines and defensins”

    From Targeting Janus Kinases and Signal Transducer and Activator of Transcription 3 To Treat Inflammation, Fibrosis, and Cancer: Rationale, Progress, and Caution (2020) · cites this paper as Zhang et al., 2018

    The Job’s syndrome section (page unavailable) reports low Th17-cell levels and defective Th17 differentiation in patients with AD STAT3 deficiency, and links IL-17 activity to neutrophil recruitment. It does not state that these patients produce less IL-22 or that reduced IL-17 and IL-22 decrease epithelial chemokine and defensin production. (LLM, conf=0.86)

    Experimental — accuracy not yet measured

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References 200 · Cited by 67

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Authors
Zhang, Q., Boisson, B., Béziat, V., Puel, A., & Casanova, J.-L.
Affiliations
  • Rockefeller University (US)
  • Inserm (FR)
  • Hôpital Necker-Enfants Malades (FR)
Corresponding author
Zhang, Qian
ORCID
Venue
Mammalian Genome
Publisher
Springer Science and Business Media LLC
Published
2018-08
Volume
29
Issue
7-8
Pages
603-617
ISSN
  • 0938-8990 (ISSN-L)
  • 1432-1777
DOI
10.1007/s00335-018-9767-2
PMC
PMC6317873
OpenAlex
W2887847012
Cited by
67
References
200
Citations by year
2026: 3 · 2025: 5 · 2024: 1 · 2023: 5 · 2022: 8 · 2021: 15 · 2020: 22 · 2019: 4 · 2018: 3
FWCI
1.14
Type
journal article
Language
en
Open access
Licence
Locations
  • Mammalian Genome (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • Howard Hughes Medical Institute (NA; PI: JLC)
  • National Institute of Allergy and Infectious Diseases (5R01AI127564-02)
Topics
  • Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
  • Life Sciences › Immunology and Microbiology › Immunology › T-cell and B-cell Immunology
  • Health Sciences › Medicine › Hematology › Autoimmune and Inflammatory Disorders Research
Keywords
STAT3 deficiency, DOCK8 deficiency, primary immunodeficiency, atopy, serum IgE, mouse model, disease classification, tissue-specific immunity
MeSH terms
Animals, Antibody Formation, Disease Models, Animal, Disease Susceptibility, Humans, Immunoglobulin E, Job Syndrome, Phenotype, Phosphoglucomutase, Signal Transduction, Biomarkers, Genetic Predisposition to Disease, Guanine Nucleotide Exchange Factors, STAT3 Transcription Factor

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