A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

Heterozygosity for human signal transducer and activator of transcription 3 dominant-negative (DN) mutations underlies an autosomal dominant form of hyper-immunoglobulin E syndrome (HIES). We describe patients with an autosomal recessive form of HIES due to loss-of-function mutations of a previously uncharacterized gene, ZNF341 ZNF341 is a transcription factor that resides in the nucleus, where it binds a specific DNA motif present in various genes, including the promoter. The patients' cells have low basal levels of mRNA and protein. The autoinduction of duanyu18133 production, activation, and function by cytokines is strongly impaired. Like patients with duanyu18133 DN mutations, ZNF341-deficient patients lack T helper 17 (T_H17) cells, have an excess of T_H2 cells, and have low memory B cells due to the tight dependence of duanyu18133 activity on ZNF341 in lymphocytes. Their milder extra-hematopoietic manifestations and stronger inflammatory responses reflect the lower ZNF341 dependence of duanyu18133 activity in other cell types. Human ZNF341 is essential for the duanyu18133 transcription-dependent autoinduction and sustained activity of

KEYWORDS: {{ getKeywords(articleDetailText.words) }}