Phenotypic and Genotypic Spectrum of Children with Autosomal Recessive Hyperimmunoglobulin E Syndrome Caused by DOCK8 Mutation: A Systematic Review of Case Reports

Background: Hyperimmunoglobulin E (IgE) syndrome (HIES) is a rare primary immunodeficiency disease, with features of recurrent eczema-like rashes, skin and lung infections, and elevated serum IgE. Common genetic mutations involve STAT3 and DOCK8 in autosomal dominant and recessive types, respectivel...

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Bibliografiska uppgifter

Huvudupphov:	Ananyan Sampath, Hemant Yadav, Sanjuna Juluri, Girish Chandra Bhat, Yogendra Singh Yadav
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Wolters Kluwer Medknow Publications 2024-08-01
Serie:	Indian Pediatrics Case Reports
Ämnen:	combined immunodeficiency dock8 deficiency hyperimmunoglobulin e syndrome job syndrome natural outcome
Länkar:	https://journals.lww.com/10.4103/ipcares.ipcares_156_24
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