Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy

Furio, Laetitia; Hovnanian, Alain

doi:10.1515/hsz-2014-0137

Cited by 65 publications

(64 citation statements)

References 109 publications

(142 reference statements)

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“…Some patients also experience severe sepsis and cutaneous infections with viruses such as HPV, presumably because of the skin lesions. The phenotype, genotype, and mouse models have all recently been reviewed [185, 187-190]. In addition, filaggrin ( FLG ) deficiency can lead to impaired keratinization and defective skin barriers, which result in ichthyosis vulgaris and in some patients with elevated serum IgE [191-193].…”

Section: Other Syndromes In Which Ige Levels Are Highmentioning

confidence: 99%

Human hyper-IgE syndrome: singular or plural?

et al. 2018

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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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Section: Other Syndromes In Which Ige Levels Are Highmentioning

confidence: 99%

Human hyper-IgE syndrome: singular or plural?

et al. 2018

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“…LEKTI is expressed in both the epithelia and the thymus. Murine models have shown that LEKTI deficiency leads to unopposed kallikrein-related peptidase activity, ultimately causing impaired epidermal differentiation, defective cornification and poor skin barrier formation [136, 142, 143]. …”

Section: Dermatologic Syndromes With Immunodysregulation Associatedmentioning

confidence: 99%

Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation

Williams

Milner

Freeman

2015

Immunology and Allergy Clinics of North America

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Synopsis Elevated serum eosinophil levels have been associated with multiple disorders of immune deficiency or immune dysregulation. Although primary immunodeficiency diseases (PIDD) are rare, it is important to consider these in the differential diagnosis of patients with eosinophilia. This review discusses the clinical features, laboratory findings, diagnosis, and genetic basis of disease of several disorders of immune deficiency or dysregulation – all which have documented eosinophilia as part of the syndrome. The article includes autosomal dominant hyper IgE syndrome, DOCK8 deficiency, PGM3 deficiency, ADA-SCID, Omenn syndrome, Wiskott-Aldrich syndrome, Loeys-Dietz syndrome, autoimmune lymphoproliferative syndrome, immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, Comel-Netherton syndrome, and severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM).

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“…At birth, an ichthyosiform erythroderma is usually observed . ILC consists on erythematous migratory polycyclic patches surrounded by serpiginous double‐edged scales, which is the typical cutaneous manifestation of this syndrome …”

Section: Discussionmentioning

confidence: 99%