Hyper IgE syndromes: clinical and molecular characteristics

Taha Al-Shaikhly, Hans D. Ochs

Research output: Contribution to journalReview article

5 Citations (Scopus)

Abstract

Hyper IgE syndromes comprise a group of rare primary immunodeficiency disorders characterized by a triad of atopic dermatitis, recurrent skin and lung infections along with elevated IgE levels. Job syndrome or autosomal dominant hyper IgE syndrome because of heterozygous loss-of-function mutations with dominant negative effect in signal transducer and activator of transcription-3 is the prototype of these disorders. However, several other genetically characterized immunodeficiency disorders have been identified over the past decade and joined the umbrella of hyper IgE syndromes including autosomal recessive mutations in the DOCK8, ZNF431 and PGM3 genes and heterozygous mutations with dominant negative effect in the CARD11 gene. Moreover, a number of phenotypically distinct immunodeficiency disorders can mimic hyper IgE syndromes, adding to the diagnostic challenge. Herein, we will concisely review these disorders, their molecular bases, highlighting key distinguishing clinical and laboratory findings and therapeutic options.

Original languageEnglish (US)
Pages (from-to)368-379
Number of pages12
JournalImmunology and Cell Biology
Volume97
Issue number4
DOIs
StatePublished - Apr 2019

Fingerprint

Job Syndrome
Mutation
STAT3 Transcription Factor
Atopic Dermatitis
Immunoglobulin E
Genes
Lung
Skin
Infection

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology
  • Cell Biology

Cite this

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Hyper IgE syndromes : clinical and molecular characteristics. / Al-Shaikhly, Taha; Ochs, Hans D.

In: Immunology and Cell Biology, Vol. 97, No. 4, 04.2019, p. 368-379.

Research output: Contribution to journalReview article

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AU - Ochs, Hans D.

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