Article
Inherited human ZNF341 deficiency.
Current opinion in immunology - 1 Jun 2023
Béziat Vivien, Fieschi Claire, Momenilandi Mana, Migaud Mélanie, Belaid Brahim, Djidjik Reda, Puel Anne
Abstract excerpt
Typical hyper-IgE syndromes (HIES) are caused by autosomal-dominant-negative (DN) variants of STAT3 (Signal Transducer And Activator Of Transcription 3) or IL6ST (Interleukin 6 Cytokine Family Signal Transducer), biallelic partial loss-of-function (LOF) variants of IL6ST, or biallelic complete LOF variants of ZNF341 (Zinc Finger Protein 341). Including the two new cases described in this review, only 20 patients...
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