ZNF341-Related Autosomal Recessive Hyper-IgE Syndrome: A Case Series of Four Patients
Abstract
Autosomal recessive hyper-IgE syndrome (AR-HIES) caused by ZNF341 deficiency is a rare primary immunodeficiency where the patients displayed combination of high IgE levels, severe dermatitis, skin infections, cold abscesses, recurrent pneumonia, oral thrush, and intellectual disability. Due to its rarity, clinical and immunological characteristics remain poorly understood. We report a series of four genetically confirmed patients with AR-HIES linked to ZNF341 mutations.
We retrospectively reviewed the clinical, immunological, and genetic profiles of four patients diagnosed with AR-HIES at Mother and Child Hospital El Harrouchi. Diagnosis was confirmed by whole-exome sequencing (WES).
Four genetically confirmed patients with AR-HIES linked to ZNF341 were studied. The age at diagnosis ranged from 3 to 17 years. All patients had elevated IgE levels, with other immunoglobulins normal. Flow cytometry revealed normal CD3, CD4, and CD8 counts, while NK cell levels were low, and PNE levels were elevated in all cases. The clinical manifestations included recurrent skin infections, mucosal candidiasis, and respiratory issues. Some patients had severe forms like necrotizing pneumonia, recurrent impetigo, and otitis. Atopic features such as pruritus, chronic dermatitis, and food allergies were observed. NIH scores ranged from 25 to 51, reflecting clinical severity.
ZNF341-related AR-HIES should be considered in patients with severe eczema, high IgE, and recurrent infections,…
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